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LOCUS AH001475 4355 bp DNA linear PRI 10-JUN-2016
DEFINITION Homo sapiens beta-globin gene, complete cds.
ACCESSION AH001475 M34058 M34059
VERSION AH001475.2
KEYWORDS beta-globin.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 4355)
AUTHORS Thein,S.L., Hesketh,C., Taylor,P., Temperley,I.J., Hutchinson,R.M.,
Old,J.M., Wood,W.G., Clegg,J.B. and Weatherall,D.J.
TITLE Molecular basis for dominantly inherited inclusion body
beta-thalassemia
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 87 (10), 3924-3928 (1990)
PUBMED 1971109
COMMENT On or before Jun 10, 2016 this sequence version replaced M34058.1,
M34059.1, AH001475.1.
FEATURES Location/Qualifiers
source 1..4355
/organism="Homo sapiens"
/mol_type="genomic DNA"
/db_xref="taxon:9606"
regulatory 1484..1492
/regulatory_class="CAAT_signal"
regulatory 1532..1538
/regulatory_class="TATA_box"
CDS join(1612..1703,1834..2056,2907..3015,3972..4075)
/note="beta-globin"
/codon_start=1
/protein_id="AAA35952.1"
/translation="MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFE
SFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPE
NFRLLGNVLVCVLAHHFGKEFTPPVQPHLSVVWLMPWPTTPGQRAGLCAGPSLWQIIH
PTSAGCLSESGGWCG"
exon <1612..1703
/note="beta-globin"
/number=1
intron 1704..1833
/note="beta-globin intron A"
exon 1834..2056
/number=2
intron 2057..2906
/note="beta-globin intron B"
exon 2907..3015
/number=3
intron 3016..>3703
/note="beta-globin intron C"
gap 3704..3803
/estimated_length=unknown
intron <3804..3971
/note="beta-globin intron C"
exon 3972..>4075
/note="beta-globin"
/number=4
ORIGIN
1 tctatttatt tagcaataat agagaaagca tttaagagaa taaagcaatg gaaataagaa
61 atttgtaaat ttccttctga taactagaaa tagaggatcc agtttctttt ggttaaccta
121 aattttattt cattttattg ttttatttta ttttatttta ttttatttta ttttgtgtaa
181 tcgtagtttc agagtgttag agctgaaagg aagaagtagg agaaacatgc aaagtaaaag
241 tataacactt tccttactaa accgacatgg gtttccaggt aggggcagga ttcaggatga
301 ctgacagggc ccttagggaa cactgagacc ctacgctgac ctcataaatg cttgctacct
361 ttgctgtttt aattacatct tttaatagca ggaagcagaa ctctgcactt caaaagtttt
421 tcctcacctg aggagttaat ttagtacaag gggaaaaagt acagggggat gggagaaagg
481 cgatcacgtt gggaagctat agagaaagaa gagtaaattt tagtaaagga ggtttaaaca
541 aacaaaatat aaagagaaat aggaacttga atcaaggaaa tgattttaaa acgcagtatt
601 cttagtggac tagaggaaaa aaataatctg agccaagtag aagacctttt cccctcctac
661 ccctactttc taagtcacag aggctttttg ttcccccaga cactcttgca gattagtcca
721 ggcagaaaca gttagatgtc cccagttaac ctcctatttg acaccactga ttaccccatt
781 gatagtcaca ctttgggttg taagtgactt tttatttatt tgtatttttg actgcattaa
841 gaggtctcta gttttttatc tcttgtttcc caaaacctaa taagtaacta atgcacagag
901 cacattgatt tgtatttatt ctatttttag acataattta ttagcatgca tgagcaaatt
961 aagaaaaaca acaacaaatg aatgcatata tatgtatatg tatgtgtgta catatacaca
1021 tatatatata tatttttttt cttttcttac cagaaggttt taatccaaat aaggagaaga
1081 tatgcttaga actgaggtag agttttcatc cattctgtcc tgtaagtatt ttgcatattc
1141 tggagacgca ggaagagatc catctacata tcccaaagct gaattatggt agacaaaact
1201 cttccacttt tagtgcatca atttcttatt tgtgtaataa gaaaattggg aaaacgatct
1261 tcaatatgct taccaagctg tgattccaaa tattacgtaa atacacttgc aaaggaggat
1321 gtttttagta gcaatttgta ctgatggtat ggggccaaga gatatatctt agagggaggg
1381 ctgagggttt gaagtccaac tcctaagcca gtgccagaag agccaaggac aggtacggct
1441 gtcatcactt agacctcacc ctgtggagcc acaccctagg gttggccaat ctactcccag
1501 gagcagggag ggcaggagcc agggctgggc ataaaagtca gggcagagcc atctattgct
1561 tacatttgct tctgacacaa ctgtgttcac tagcaacctc aaacagacac catggtgcac
1621 ctgactcctg aggagaagtc tgccgttact gccctgtggg gcaaggtgaa cgtggatgaa
1681 gttggtggtg aggccctggg caggttggta tcaaggttac aagacaggtt taaggagacc
1741 aatagaaact gggcatgtgg agacagagaa gactcttggg tttctgatag gcactgactc
1801 tctctgccta ttggtctatt ttcccaccct taggctgctg gtggtctacc cttggaccca
1861 gaggttcttt gagtcctttg gggatctgtc cactcctgat gctgttatgg gcaaccctaa
1921 ggtgaaggct catggcaaga aagtgctcgg tgcctttagt gatggcctgg ctcacctgga
1981 caacctcaag ggcacctttg ccacactgag tgagctgcac tgtgacaagc tgcacgtgga
2041 tcctgagaac ttcagggtga gtctatggga cccttgatgt tttctttccc cttcttttct
2101 atggttaagt tcatgtcata ggaaggggag aagtaacagg gtacagttta gaatgggaaa
2161 cagacgaatg attgcatcag tgtggaagtc tcaggatcgt tttagtttct tttatttgct
2221 gttcataaca attgttttct tttgtttaat tcttgctttc tttttttttc ttctccgcaa
2281 tttttactat tatacttaat gccttaacat tgtgtataac aaaaggaaat atctctgaga
2341 tacattaagt aacttaaaaa aaaactttac acagtctgcc tagtacatta ctatttggaa
2401 tatatgtgtg cttatttgca tattcataat ctccctactt tattttcttt tatttttaat
2461 tgatacataa tcattataca tatttatggg ttaaagtgta atgttttaat atgtgtacac
2521 atattgacca aatcagggta attttgcatt tgtaatttta aaaaatgctt tcttctttta
2581 atatactttt ttgtttatct tatttctaat actttcccta atctctttct ttcagggcaa
2641 taatgataca atgtatcatg cctctttgca ccattctaaa gaataacagt gataatttct
2701 gggttaaggc aatagcaata tttctgcata taaatatttc tgcatataaa ttgtaactga
2761 tgtaagaggt ttcatattgc taatagcagc tacaatccag ctaccattct gcttttattt
2821 tatggttggg ataaggctgg attattctga gtccaagcta ggcccttttg ctaatcatgt
2881 tcatacctct tatcttcctc ccacagctcc tgggcaacgt gctggtctgt gtgctggccc
2941 atcactttgg caaagaattc accccaccag tgcagccaca cctatcagtg gtgtggctaa
3001 tgccctggcc cacaagtatc actaagctcg ctttcttgct gtccaatttc tattaaaggt
3061 tcctttgttc cctaagtcca actactaaac tgggggatat tatgaagggc cttgagcatc
3121 tggattctgc ctaataaaaa acatttattt tcattgcaat gatgtattta aattatttct
3181 gaatatttta ctaaaaaggg aatgtgggag gtcagtgcat ttaaaacata aagaaatgaa
3241 gagctagttc aaaccttggg aaaatacact atatcttaaa ctccatgaaa gaaggtgagg
3301 ctgcaaacag ctaatgcaca ttggcaacag ccctgatgcc tatgccttat tcatccctca
3361 gaaaaggatt caagtagagg cttgatttgg aggttaaagt tttctatgct gtattttaca
3421 ttacttattg ttttagctgt cctcatgaat gtcttttcac tacccatttg cttatcctgc
3481 atctctcagc cttgactcca ctcagttctc ttgcttagag ataccacctt tcccctgaag
3541 tgttccttcc atgttttacg gcgagatggt ttctcctcgc ctggccactc agccttagtt
3601 gtctctgttg tcttatagag gtctacttga agaaggaaaa acagggggca cggtttgact
3661 gtcctgtgag cccttcttcc ctgcctcccc cactcacagt gacnnnnnnn nnnnnnnnnn
3721 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
3781 nnnnnnnnnn nnnnnnnnnn nnntctgcat ataaattgta actgatgtaa gaggtttcat
3841 attgctaata gcagctacaa tccagctacc attctgcttt tattttatgg ttgggataag
3901 gctggattat tctgagtcca agctaggccc ttttgctaat catgttcata cctcttatct
3961 tcctcccaca gctcctgggc aacgtgctgg tctgtgtgct ggcccatcac tttggcaaat
4021 aattcacccc accagtgcag gctgcctatc agaaagtggt ggctggtgtg gctaatgccc
4081 tggcccacaa gtatcactaa gctcgctttc ttgctgtcca atttctatta aaggttcctt
4141 tgttccctaa gtccaactac taaactgggg gatattatga agggccttga gcatctggat
4201 tctgcctaat aaaaaacatt tattttcatt gcaatgatgt atttaaatta tttctgaata
4261 ttttactaaa aagggaatgt gggaggtcag tgcatttaaa acataaagaa atgaagagct
4321 agttcaaacc ttgggaaaat acactatatc ttaaa
//
LOCUS HUMBETGLOR 3000 bp DNA linear PRI 26-AUG-1994
DEFINITION Human haplotype D3 beta-globin gene, complete cds.
ACCESSION L26478
VERSION L26478.1
KEYWORDS beta-globin.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 3000)
AUTHORS Fullerton,S.M., Harding,R.M., Boyce,A.J. and Clegg,J.B.
TITLE Molecular and population genetic analysis of allelic sequence
diversity at the human beta-globin locus
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 91 (5), 1805-1809 (1994)
PUBMED 7907422
FEATURES Location/Qualifiers
source 1..3000
/organism="Homo sapiens"
/mol_type="genomic DNA"
/db_xref="taxon:9606"
/haplotype="D3"
/note="sequence found in a Melanesian population"
variation 111
/replace="t"
variation 263
/note="Rsa I polymorphism"
/replace="c"
variation 273
/replace="c"
variation 285..286
/note="2 bp insertion"
/replace="at"
variation 286
/replace="a"
variation 293..294
/note="1 bp deletion of C or 2 bp deletion of CT"
/replace=""
variation 345
/replace="c"
variation 474
/replace="t"
variation 498
/replace="c"
CDS join(864..955,1086..1308,2159..2287)
/codon_start=1
/product="beta-globin"
/protein_id="AAA21116.1"
/translation="MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFE
SFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPE
NFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH"
exon 864..955
/number=1
variation 872
/replace="c"
intron 956..1085
/number=1
exon 1086..1308
/number=2
intron 1309..2158
/number=2
variation 1324
/note="Ava II polymorphism; c"
/replace=""
variation 1382
/replace="g"
variation 1389
/replace="c"
variation 1974
/replace="t"
exon 2159..2287
/number=3
variation 2520
/replace="g"
variation 2600
/replace="a"
variation 2602
/replace="c"
variation 2758
/note="Hinf I polymorphism"
/replace="t"
variation 2911
/replace="g"
ORIGIN
1 acctcctatt tgacaccact gattacccca ttgatagtca cactttgggt tgtaagtgac
61 tttttattta tttgtatttt tgactgcatt aagaggtctc tagtttttta cctcttgttt
121 cccaaaacct aataagtaac taatgcacag agcacattga tttgtattta ttctattttt
181 agacataatt tattagcatg catgagcaaa ttaagaaaaa caacaacaaa tgaatgcata
241 tatatgtata tgtatgtgtg tatatataca catatatata tatatttttt ttcttttctt
301 accagaaggt tttaatccaa ataaggagaa gatatgctta gaactgaggt agagttttca
361 tccattctgt cctgtaagta ttttgcatat tctggagacg caggaagaga tccatctaca
421 tatcccaaag ctgaattatg gtagacaaaa ctcttccact tttagtgcat caacttctta
481 tttgtgtaat aagaaaattg ggaaaacgat cttcaatatg cttaccaagc tgtgattcca
541 aatattacgt aaatacactt gcaaaggagg atgtttttag tagcaatttg tactgatggt
601 atggggccaa gagatatatc ttagagggag ggctgagggt ttgaagtcca actcctaagc
661 cagtgccaga agagccaagg acaggtacgg ctgtcatcac ttagacctca ccctgtggag
721 ccacacccta gggttggcca atctactccc aggagcaggg agggcaggag ccagggctgg
781 gcataaaagt cagggcagag ccatctattg cttacatttg cttctgacac aactgtgttc
841 actagcaacc tcaaacagac accatggtgc atctgactcc tgaggagaag tctgccgtta
901 ctgccctgtg gggcaaggtg aacgtggatg aagttggtgg tgaggccctg ggcaggttgg
961 tatcaaggtt acaagacagg tttaaggaga ccaatagaaa ctgggcatgt ggagacagag
1021 aagactcttg ggtttctgat aggcactgac tctctctgcc tattggtcta ttttcccacc
1081 cttaggctgc tggtggtcta cccttggacc cagaggttct ttgagtcctt tggggatctg
1141 tccactcctg atgctgttat gggcaaccct aaggtgaagg ctcatggcaa gaaagtgctc
1201 ggtgccttta gtgatggcct ggctcacctg gacaacctca agggcacctt tgccacactg
1261 agtgagctgc actgtgacaa gctgcacgtg gatcctgaga acttcagggt gagtctatgg
1321 gacgcttgat gttttctttc cccttctttt ctatggttaa gttcatgtca taggaagggg
1381 ataagtaata gggtacagtt tagaatggga aacagacgaa tgattgcatc agtgtggaag
1441 tctcaggatc gttttagttt cttttatttg ctgttcataa caattgtttt cttttgttta
1501 attcttgctt tctttttttt tcttctccgc aatttttact attatactta atgccttaac
1561 attgtgtata acaaaaggaa atatctctga gatacattaa gtaacttaaa aaaaaacttt
1621 acacagtctg cctagtacat tactatttgg aatatatgtg tgcttatttg catattcata
1681 atctccctac tttattttct tttattttta attgatacat aatcattata catatttatg
1741 ggttaaagtg taatgtttta atatgtgtac acatattgac caaatcaggg taattttgca
1801 tttgtaattt taaaaaatgc tttcttcttt taatatactt ttttgtttat cttatttcta
1861 atactttccc taatctcttt ctttcagggc aataatgata caatgtatca tgcctctttg
1921 caccattcta aagaataaca gtgataattt ctgggttaag gcaatagcaa tatctctgca
1981 tataaatatt tctgcatata aattgtaact gatgtaagag gtttcatatt gctaatagca
2041 gctacaatcc agctaccatt ctgcttttat tttatggttg ggataaggct ggattattct
2101 gagtccaagc taggcccttt tgctaatcat gttcatacct cttatcttcc tcccacagct
2161 cctgggcaac gtgctggtct gtgtgctggc ccatcacttt ggcaaagaat tcaccccacc
2221 agtgcaggct gcctatcaga aagtggtggc tggtgtggct aatgccctgg cccacaagta
2281 tcactaagct cgctttcttg ctgtccaatt tctattaaag gttcctttgt tccctaagtc
2341 caactactaa actgggggat attatgaagg gccttgagca tctggattct gcctaataaa
2401 aaacatttat tttcattgca atgatgtatt taaattattt ctgaatattt tactaaaaag
2461 ggaatgtggg aggtcagtgc atttaaaaca taaagaaatg aagagctagt tcaaaccttc
2521 ggaaaataca ctatatctta aactccatga aagaaggtga ggctgcaaac agctaatgca
2581 cattggcaac agccctgatg catatgcctt attcatccct cagaaaagga ttcaagtaga
2641 ggcttgattt ggaggttaaa gttttgctat gctgtatttt acattactta ttgttttagc
2701 tgtcctcatg aatgtctttt cactacccat ttgcttatcc tgcatctctc agccttgact
2761 ccactcagtt ctcttgctta gagataccac ctttcccctg aagtgttcct tccatgtttt
2821 acggcgagat ggtttctcct cgcctggcca ctcagcctta gttgtctctg ttgtcttata
2881 gaggtctact tgaagaagga aaaacagggg tcatggtttg actgtcctgt gagcccttct
2941 tccctgcctc ccccactcac agtgacccgg aatctgcagt gctagtctcc cggaactatc
//
LOCUS HUMBETGLOP 3000 bp DNA linear PRI 26-AUG-1994
DEFINITION Human haplotype D2 beta-globin gene, complete cds.
ACCESSION L26477
VERSION L26477.1
KEYWORDS beta-globin.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 3000)
AUTHORS Fullerton,S.M., Harding,R.M., Boyce,A.J. and Clegg,J.B.
TITLE Molecular and population genetic analysis of allelic sequence
diversity at the human beta-globin locus
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 91 (5), 1805-1809 (1994)
PUBMED 7907422
FEATURES Location/Qualifiers
source 1..3000
/organism="Homo sapiens"
/mol_type="genomic DNA"
/db_xref="taxon:9606"
/haplotype="D2"
/note="sequence found in a Melanesian population"
variation 111
/replace="c"
variation 263
/note="Rsa I polymorphism"
/replace="c"
variation 273
/replace="c"
variation 285..286
/note="2 bp insertion"
/replace="at"
variation 286
/replace="a"
variation 293..294
/note="1 bp deletion of C or 2 bp deletion of CT"
/replace=""
variation 345
/replace="c"
variation 474
/replace="t"
variation 498
/replace="c"
CDS join(864..955,1086..1308,2159..2287)
/codon_start=1
/product="beta-globin"
/protein_id="AAA21115.1"
/translation="MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFE
SFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPE
NFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH"
exon <864..955
/number=1
variation 872
/replace="t"
intron 956..1085
/number=1
exon 1086..1308
/number=2
intron 1309..2158
/number=2
variation 1324
/note="Ava II polymorphism"
/replace="c"
variation 1382
/replace="g"
variation 1389
/replace="c"
variation 1974
/replace="t"
exon 2159..>2287
/number=3
variation 2520
/replace="g"
variation 2600
/replace="a"
variation 2602
/replace="c"
variation 2758
/note="Hinf I polymorphism"
/replace="t"
variation 2911
/replace="g"
ORIGIN
1 acctcctatt tgacaccact gattacccca ttgatagtca cactttgggt tgtaagtgac
61 tttttattta tttgtatttt tgactgcatt aagaggtctc tagtttttta tctcttgttt
121 cccaaaacct aataagtaac taatgcacag agcacattga tttgtattta ttctattttt
181 agacataatt tattagcatg catgagcaaa ttaagaaaaa caacaacaaa tgaatgcata
241 tatatgtata tgtatgtgtg tatatataca catatatata tatatttttt ttcttttctt
301 accagaaggt tttaatccaa ataaggagaa gatatgctta gaactgaggt agagttttca
361 tccattctgt cctgtaagta ttttgcatat tctggagacg caggaagaga tccatctaca
421 tatcccaaag ctgaattatg gtagacaaaa ctcttccact tttagtgcat caacttctta
481 tttgtgtaat aagaaaattg ggaaaacgat cttcaatatg cttaccaagc tgtgattcca
541 aatattacgt aaatacactt gcaaaggagg atgtttttag tagcaatttg tactgatggt
601 atggggccaa gagatatatc ttagagggag ggctgagggt ttgaagtcca actcctaagc
661 cagtgccaga agagccaagg acaggtacgg ctgtcatcac ttagacctca ccctgtggag
721 ccacacccta gggttggcca atctactccc aggagcaggg agggcaggag ccagggctgg
781 gcataaaagt cagggcagag ccatctattg cttacatttg cttctgacac aactgtgttc
841 actagcaacc tcaaacagac accatggtgc acctgactcc tgaggagaag tctgccgtta
901 ctgccctgtg gggcaaggtg aacgtggatg aagttggtgg tgaggccctg ggcaggttgg
961 tatcaaggtt acaagacagg tttaaggaga ccaatagaaa ctgggcatgt ggagacagag
1021 aagactcttg ggtttctgat aggcactgac tctctctgcc tattggtcta ttttcccacc
1081 cttaggctgc tggtggtcta cccttggacc cagaggttct ttgagtcctt tggggatctg
1141 tccactcctg atgctgttat gggcaaccct aaggtgaagg ctcatggcaa gaaagtgctc
1201 ggtgccttta gtgatggcct ggctcacctg gacaacctca agggcacctt tgccacactg
1261 agtgagctgc actgtgacaa gctgcacgtg gatcctgaga acttcagggt gagtctatgg
1321 gacgcttgat gttttctttc cccttctttt ctatggttaa gttcatgtca taggaagggg
1381 ataagtaata gggtacagtt tagaatggga aacagacgaa tgattgcatc agtgtggaag
1441 tctcaggatc gttttagttt cttttatttg ctgttcataa caattgtttt cttttgttta
1501 attcttgctt tctttttttt tcttctccgc aatttttact attatactta atgccttaac
1561 attgtgtata acaaaaggaa atatctctga gatacattaa gtaacttaaa aaaaaacttt
1621 acacagtctg cctagtacat tactatttgg aatatatgtg tgcttatttg catattcata
1681 atctccctac tttattttct tttattttta attgatacat aatcattata catatttatg
1741 ggttaaagtg taatgtttta atatgtgtac acatattgac caaatcaggg taattttgca
1801 tttgtaattt taaaaaatgc tttcttcttt taatatactt ttttgtttat cttatttcta
1861 atactttccc taatctcttt ctttcagggc aataatgata caatgtatca tgcctctttg
1921 caccattcta aagaataaca gtgataattt ctgggttaag gcaatagcaa tatctctgca
1981 tataaatatt tctgcatata aattgtaact gatgtaagag gtttcatatt gctaatagca
2041 gctacaatcc agctaccatt ctgcttttat tttatggttg ggataaggct ggattattct
2101 gagtccaagc taggcccttt tgctaatcat gttcatacct cttatcttcc tcccacagct
2161 cctgggcaac gtgctggtct gtgtgctggc ccatcacttt ggcaaagaat tcaccccacc
2221 agtgcaggct gcctatcaga aagtggtggc tggtgtggct aatgccctgg cccacaagta
2281 tcactaagct cgctttcttg ctgtccaatt tctattaaag gttcctttgt tccctaagtc
2341 caactactaa actgggggat attatgaagg gccttgagca tctggattct gcctaataaa
2401 aaacatttat tttcattgca atgatgtatt taaattattt ctgaatattt tactaaaaag
2461 ggaatgtggg aggtcagtgc atttaaaaca taaagaaatg aagagctagt tcaaaccttc
2521 ggaaaataca ctatatctta aactccatga aagaaggtga ggctgcaaac agctaatgca
2581 cattggcaac agccctgatg catatgcctt attcatccct cagaaaagga ttcaagtaga
2641 ggcttgattt ggaggttaaa gttttgctat gctgtatttt acattactta ttgttttagc
2701 tgtcctcatg aatgtctttt cactacccat ttgcttatcc tgcatctctc agccttgact
2761 ccactcagtt ctcttgctta gagataccac ctttcccctg aagtgttcct tccatgtttt
2821 acggcgagat ggtttctcct cgcctggcca ctcagcctta gttgtctctg ttgtcttata
2881 gaggtctact tgaagaagga aaaacagggg tcatggtttg actgtcctgt gagcccttct
2941 tccctgcctc ccccactcac agtgacccgg aatctgcagt gctagtctcc cggaactatc
//
LOCUS HUMBETGLOO 3000 bp DNA linear PRI 26-AUG-1994
DEFINITION Human haplotype D1 beta-globin gene, complete cds.
ACCESSION L26476
VERSION L26476.1
KEYWORDS beta-globin.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 3000)
AUTHORS Fullerton,S.M., Harding,R.M., Boyce,A.J. and Clegg,J.B.
TITLE Molecular and population genetic analysis of allelic sequence
diversity at the human beta-globin locus
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 91 (5), 1805-1809 (1994)
PUBMED 7907422
FEATURES Location/Qualifiers
source 1..3000
/organism="Homo sapiens"
/mol_type="genomic DNA"
/db_xref="taxon:9606"
/haplotype="D1"
/note="sequence found in a Melanesian population"
variation 111
/replace="c"
variation 263
/note="Rsa I polymorphism"
/replace="c"
variation 273
/replace="c"
variation 285..286
/note="2 bp insertion"
/replace="at"
variation 286
/replace="a"
variation 293..294
/note="1 bp deletion of C or 2 bp deletion of CT"
/replace=""
variation 345
/replace=""
variation 474
/replace="t"
variation 498
/replace="c"
CDS join(864..955,1086..1308,2159..2287)
/codon_start=1
/product="beta-globin"
/protein_id="AAA21114.1"
/translation="MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFE
SFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPE
NFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH"
exon <864..955
/number=1
variation 872
/replace="c"
intron 956..1085
/number=1
exon 1086..1308
/number=2
intron 1309..2158
/number=2
variation 1324
/note="Ava II polymorphism"
/replace="c"
variation 1382
/replace="g"
variation 1389
/replace="c"
variation 1974
/replace="t"
exon 2159..>2287
/number=3
variation 2520
/replace="g"
variation 2600
/replace="a"
variation 2602
/replace="c"
variation 2758
/note="Hinf I polymorphism"
/replace="t"
variation 2911
/replace="g"
ORIGIN
1 acctcctatt tgacaccact gattacccca ttgatagtca cactttgggt tgtaagtgac
61 tttttattta tttgtatttt tgactgcatt aagaggtctc tagtttttta tctcttgttt
121 cccaaaacct aataagtaac taatgcacag agcacattga tttgtattta ttctattttt
181 agacataatt tattagcatg catgagcaaa ttaagaaaaa caacaacaaa tgaatgcata
241 tatatgtata tgtatgtgtg tatatataca catatatata tatatttttt ttcttttctt
301 accagaaggt tttaatccaa ataaggagaa gatatgctta gaactgaggt agagttttca
361 tccattctgt cctgtaagta ttttgcatat tctggagacg caggaagaga tccatctaca
421 tatcccaaag ctgaattatg gtagacaaaa ctcttccact tttagtgcat caacttctta
481 tttgtgtaat aagaaaattg ggaaaacgat cttcaatatg cttaccaagc tgtgattcca
541 aatattacgt aaatacactt gcaaaggagg atgtttttag tagcaatttg tactgatggt
601 atggggccaa gagatatatc ttagagggag ggctgagggt ttgaagtcca actcctaagc
661 cagtgccaga agagccaagg acaggtacgg ctgtcatcac ttagacctca ccctgtggag
721 ccacacccta gggttggcca atctactccc aggagcaggg agggcaggag ccagggctgg
781 gcataaaagt cagggcagag ccatctattg cttacatttg cttctgacac aactgtgttc
841 actagcaacc tcaaacagac accatggtgc atctgactcc tgaggagaag tctgccgtta
901 ctgccctgtg gggcaaggtg aacgtggatg aagttggtgg tgaggccctg ggcaggttgg
961 tatcaaggtt acaagacagg tttaaggaga ccaatagaaa ctgggcatgt ggagacagag
1021 aagactcttg ggtttctgat aggcactgac tctctctgcc tattggtcta ttttcccacc
1081 cttaggctgc tggtggtcta cccttggacc cagaggttct ttgagtcctt tggggatctg
1141 tccactcctg atgctgttat gggcaaccct aaggtgaagg ctcatggcaa gaaagtgctc
1201 ggtgccttta gtgatggcct ggctcacctg gacaacctca agggcacctt tgccacactg
1261 agtgagctgc actgtgacaa gctgcacgtg gatcctgaga acttcagggt gagtctatgg
1321 gacgcttgat gttttctttc cccttctttt ctatggttaa gttcatgtca taggaagggg
1381 ataagtaata gggtacagtt tagaatggga aacagacgaa tgattgcatc agtgtggaag
1441 tctcaggatc gttttagttt cttttatttg ctgttcataa caattgtttt cttttgttta
1501 attcttgctt tctttttttt tcttctccgc aatttttact attatactta atgccttaac
1561 attgtgtata acaaaaggaa atatctctga gatacattaa gtaacttaaa aaaaaacttt
1621 acacagtctg cctagtacat tactatttgg aatatatgtg tgcttatttg catattcata
1681 atctccctac tttattttct tttattttta attgatacat aatcattata catatttatg
1741 ggttaaagtg taatgtttta atatgtgtac acatattgac caaatcaggg taattttgca
1801 tttgtaattt taaaaaatgc tttcttcttt taatatactt ttttgtttat cttatttcta
1861 atactttccc taatctcttt ctttcagggc aataatgata caatgtatca tgcctctttg
1921 caccattcta aagaataaca gtgataattt ctgggttaag gcaatagcaa tatctctgca
1981 tataaatatt tctgcatata aattgtaact gatgtaagag gtttcatatt gctaatagca
2041 gctacaatcc agctaccatt ctgcttttat tttatggttg ggataaggct ggattattct
2101 gagtccaagc taggcccttt tgctaatcat gttcatacct cttatcttcc tcccacagct
2161 cctgggcaac gtgctggtct gtgtgctggc ccatcacttt ggcaaagaat tcaccccacc
2221 agtgcaggct gcctatcaga aagtggtggc tggtgtggct aatgccctgg cccacaagta
2281 tcactaagct cgctttcttg ctgtccaatt tctattaaag gttcctttgt tccctaagtc
2341 caactactaa actgggggat attatgaagg gccttgagca tctggattct gcctaataaa
2401 aaacatttat tttcattgca atgatgtatt taaattattt ctgaatattt tactaaaaag
2461 ggaatgtggg aggtcagtgc atttaaaaca taaagaaatg aagagctagt tcaaaccttc
2521 ggaaaataca ctatatctta aactccatga aagaaggtga ggctgcaaac agctaatgca
2581 cattggcaac agccctgatg catatgcctt attcatccct cagaaaagga ttcaagtaga
2641 ggcttgattt ggaggttaaa gttttgctat gctgtatttt acattactta ttgttttagc
2701 tgtcctcatg aatgtctttt cactacccat ttgcttatcc tgcatctctc agccttgact
2761 ccactcagtt ctcttgctta gagataccac ctttcccctg aagtgttcct tccatgtttt
2821 acggcgagat ggtttctcct cgcctggcca ctcagcctta gttgtctctg ttgtcttata
2881 gaggtctact tgaagaagga aaaacagggg tcatggtttg actgtcctgt gagcccttct
2941 tccctgcctc ccccactcac agtgacccgg aatctgcagt gctagtctcc cggaactatc
//
LOCUS HUMBETGLON 3000 bp DNA linear PRI 26-AUG-1994
DEFINITION Human haplotype C2 beta-globin gene, complete cds.
ACCESSION L26475
VERSION L26475.1
KEYWORDS beta-globin.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 3000)
AUTHORS Fullerton,S.M., Harding,R.M., Boyce,A.J. and Clegg,J.B.
TITLE Molecular and population genetic analysis of allelic sequence
diversity at the human beta-globin locus
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 91 (5), 1805-1809 (1994)
PUBMED 7907422
FEATURES Location/Qualifiers
source 1..3000
/organism="Homo sapiens"
/mol_type="genomic DNA"
/db_xref="taxon:9606"
/haplotype="C2"
/note="sequence found in a Melanesian population"
variation 111
/replace="c"
variation 263
/note="Rsa I polymorphism"
/replace="c"
variation 273
/replace="t"
variation 285..286
/note="2 bp insertion"
/replace="at"
variation 286
/replace="t"
variation 293..294
/note="1 bp deletion of C or 2 bp deletion of CT"
/replace=""
variation 345
/replace="t"
variation 474
/replace="t"
variation 498
/replace="c"
CDS join(864..955,1086..1308,2159..2287)
/codon_start=1
/product="beta-globin"
/protein_id="AAA21113.1"
/translation="MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFE
SFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPE
NFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH"
exon <864..955
/number=1
variation 872
/replace="c"
intron 956..1085
/number=1
exon 1086..1308
/number=2
intron 1309..2158
/number=2
variation 1324
/note="Ava II polymorphism"
/replace="c"
variation 1382
/replace="g"
variation 1389
/replace="t"
variation 1974
/replace="t"
exon 2159..>2287
/number=3
variation 2520
/replace="c"
variation 2600
/replace="a"
variation 2602
/replace="c"
variation 2758
/note="Hinf I polymorphism"
/replace="t"
variation 2911
/replace="g"
ORIGIN
1 acctcctatt tgacaccact gattacccca ttgatagtca cactttgggt tgtaagtgac
61 tttttattta tttgtatttt tgactgcatt aagaggtctc tagtttttta tctcttgttt
121 cccaaaacct aataagtaac taatgcacag agcacattga tttgtattta ttctattttt
181 agacataatt tattagcatg catgagcaaa ttaagaaaaa caacaacaaa tgaatgcata
241 tatatgtata tgtatgtgtg tatatataca cacatatata tatatatttt ttcttttctt
301 accagaaggt tttaatccaa ataaggagaa gatatgctta gaaccgaggt agagttttca
361 tccattctgt cctgtaagta ttttgcatat tctggagacg caggaagaga tccatctaca
421 tatcccaaag ctgaattatg gtagacaaaa ctcttccact tttagtgcat caacttctta
481 tttgtgtaat aagaaaattg ggaaaacgat cttcaatatg cttaccaagc tgtgattcca
541 aatattacgt aaatacactt gcaaaggagg atgtttttag tagcaatttg tactgatggt
601 atggggccaa gagatatatc ttagagggag ggctgagggt ttgaagtcca actcctaagc
661 cagtgccaga agagccaagg acaggtacgg ctgtcatcac ttagacctca ccctgtggag
721 ccacacccta gggttggcca atctactccc aggagcaggg agggcaggag ccagggctgg
781 gcataaaagt cagggcagag ccatctattg cttacatttg cttctgacac aactgtgttc
841 actagcaacc tcaaacagac accatggtgc atctgactcc tgaggagaag tctgccgtta
901 ctgccctgtg gggcaaggtg aacgtggatg aagttggtgg tgaggccctg ggcaggttgg
961 tatcaaggtt acaagacagg tttaaggaga ccaatagaaa ctgggcatgt ggagacagag
1021 aagactcttg ggtttctgat aggcactgac tctctctgcc tattggtcta ttttcccacc
1081 cttaggctgc tggtggtcta cccttggacc cagaggttct ttgagtcctt tggggatctg
1141 tccactcctg atgctgttat gggcaaccct aaggtgaagg ctcatggcaa gaaagtgctc
1201 ggtgccttta gtgatggcct ggctcacctg gacaacctca agggcacctt tgccacactg
1261 agtgagctgc actgtgacaa gctgcacgtg gatcctgaga acttcagggt gagtctatgg
1321 gacgcttgat gttttctttc cccttctttt ctatggttaa gttcatgtca taggaagggg
1381 ataagtaaca gggtacagtt tagaatggga aacagacgaa tgattgcatc agtgtggaag
1441 tctcaggatc gttttagttt cttttatttg ctgttcataa caattgtttt cttttgttta
1501 attcttgctt tctttttttt tcttctccgc aatttttact attatactta atgccttaac
1561 attgtgtata acaaaaggaa atatctctga gatacattaa gtaacttaaa aaaaaacttt
1621 acacagtctg cctagtacat tactatttgg aatatatgtg tgcttatttg catattcata
1681 atctccctac tttattttct tttattttta attgatacat aatcattata catatttatg
1741 ggttaaagtg taatgtttta atatgtgtac acatattgac caaatcaggg taattttgca
1801 tttgtaattt taaaaaatgc tttcttcttt taatatactt ttttgtttat cttatttcta
1861 atactttccc taatctcttt ctttcagggc aataatgata caatgtatca tgcctctttg
1921 caccattcta aagaataaca gtgataattt ctgggttaag gcaatagcaa tatctctgca
1981 tataaatatt tctgcatata aattgtaact gatgtaagag gtttcatatt gctaatagca
2041 gctacaatcc agctaccatt ctgcttttat tttatggttg ggataaggct ggattattct
2101 gagtccaagc taggcccttt tgctaatcat gttcatacct cttatcttcc tcccacagct
2161 cctgggcaac gtgctggtct gtgtgctggc ccatcacttt ggcaaagaat tcaccccacc
2221 agtgcaggct gcctatcaga aagtggtggc tggtgtggct aatgccctgg cccacaagta
2281 tcactaagct cgctttcttg ctgtccaatt tctattaaag gttcctttgt tccctaagtc
2341 caactactaa actgggggat attatgaagg gccttgagca tctggattct gcctaataaa
2401 aaacatttat tttcattgca atgatgtatt taaattattt ctgaatattt tactaaaaag
2461 ggaatgtggg aggtcagtgc atttaaaaca taaagaaatg aagagctagt tcaaaccttg
2521 ggaaaataca ctatatctta aactccatga aagaaggtga ggctgcaaac agctaatgca
2581 cattggcaac agccctgatg catatgcctt attcatccct cagaaaagga ttcaagtaga
2641 ggcttgattt ggaggttaaa gttttgctat gctgtatttt acattactta ttgttttagc
2701 tgtcctcatg aatgtctttt cactacccat ttgcttatcc tgcatctctc agccttgact
2761 ccactcagtt ctcttgctta gagataccac ctttcccctg aagtgttcct tccatgtttt
2821 acggcgagat ggtttctcct cgcctggcca ctcagcctta gttgtctctg ttgtcttata
2881 gaggtctact tgaagaagga aaaacagggg tcatggtttg actgtcctgt gagcccttct
2941 tccctgcctc ccccactcac agtgacccgg aatctgcagt gctagtctcc cggaactatc
//
LOCUS HUMBETGLOM 2999 bp DNA linear PRI 26-AUG-1994
DEFINITION Human haplotype C3 beta-globin gene, complete cds.
ACCESSION L26474
VERSION L26474.1
KEYWORDS beta-globin.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 2999)
AUTHORS Fullerton,S.M., Harding,R.M., Boyce,A.J. and Clegg,J.B.
TITLE Molecular and population genetic analysis of allelic sequence
diversity at the human beta-globin locus
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 91 (5), 1805-1809 (1994)
PUBMED 7907422
FEATURES Location/Qualifiers
source 1..2999
/organism="Homo sapiens"
/mol_type="genomic DNA"
/db_xref="taxon:9606"
/haplotype="C3"
/note="sequence found in a Melanesian population"
variation 111
/replace="c"
variation 263
/note="Rsa I polymorphism"
/replace="c"
variation 273
/replace="c"
variation 285..286
/note="2 bp insertion"
/replace="at"
variation 286
/replace="t"
variation 293..294
/note="1 bp deletion"
/replace="c"
variation 344
/replace="c"
variation 473
/replace="t"
variation 497
/replace="c"
CDS join(863..954,1085..1307,2158..2286)
/codon_start=1
/product="beta-globin"
/protein_id="AAA21112.1"
/translation="MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFE
SFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPE
NFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH"
exon <863..954
/number=1
variation 871
/replace="c"
intron 955..1084
/number=1
exon 1085..1307
/number=2
intron 1308..2157
/number=2
variation 1323
/note="Ava II polymorphism"
/replace="c"
variation 1381
/replace="g"
variation 1388
/replace="t"
variation 1973
/replace="t"
exon 2158..>2286
/number=3
variation 2519
/replace="c"
variation 2599
/replace="g"
variation 2601
/replace="c"
variation 2757
/note="Hinf I polymorphism"
/replace="t"
variation 2910
/replace="g"
ORIGIN
1 acctcctatt tgacaccact gattacccca ttgatagtca cactttgggt tgtaagtgac
61 tttttattta tttgtatttt tgactgcatt aagaggtctc tagtttttta tctcttgttt
121 cccaaaacct aataagtaac taatgcacag agcacattga tttgtattta ttctattttt
181 agacataatt tattagcatg catgagcaaa ttaagaaaaa caacaacaaa tgaatgcata
241 tatatgtata tgtatgtgtg tatatataca catatatata tatatatttt ttttttctta
301 ccagaaggtt ttaatccaaa taaggagaag atatgcttag aactgaggta gagttttcat
361 ccattctgtc ctgtaagtat tttgcatatt ctggagacgc aggaagagat ccatctacat
421 atcccaaagc tgaattatgg tagacaaaac tcttccactt ttagtgcatc aacttcttat
481 ttgtgtaata agaaaattgg gaaaacgatc ttcaatatgc ttaccaagct gtgattccaa
541 atattacgta aatacacttg caaaggagga tgtttttagt agcaatttgt actgatggta
601 tggggccaag agatatatct tagagggagg gctgagggtt tgaagtccaa ctcctaagcc
661 agtgccagaa gagccaagga caggtacggc tgtcatcact tagacctcac cctgtggagc
721 cacaccctag ggttggccaa tctactccca ggagcaggga gggcaggagc cagggctggg
781 cataaaagtc agggcagagc catctattgc ttacatttgc ttctgacaca actgtgttca
841 ctagcaacct caaacagaca ccatggtgca tctgactcct gaggagaagt ctgccgttac
901 tgccctgtgg ggcaaggtga acgtggatga agttggtggt gaggccctgg gcaggttggt
961 atcaaggtta caagacaggt ttaaggagac caatagaaac tgggcatgtg gagacagaga
1021 agactcttgg gtttctgata ggcactgact ctctctgcct attggtctat tttcccaccc
1081 ttaggctgct ggtggtctac ccttggaccc agaggttctt tgagtccttt ggggatctgt
1141 ccactcctga tgctgttatg ggcaacccta aggtgaaggc tcatggcaag aaagtgctcg
1201 gtgcctttag tgatggcctg gctcacctgg acaacctcaa gggcaccttt gccacactga
1261 gtgagctgca ctgtgacaag ctgcacgtgg atcctgagaa cttcagggtg agtctatggg
1321 acgcttgatg ttttctttcc ccttcttttc tatggttaag ttcatgtcat aggaagggga
1381 taagtaacag ggtacagttt agaatgggaa acagacgaat gattgcatca gtgtggaagt
1441 ctcaggatcg ttttagtttc ttttatttgc tgttcataac aattgttttc ttttgtttaa
1501 ttcttgcttt cttttttttt cttctccgca atttttacta ttatacttaa tgccttaaca
1561 ttgtgtataa caaaaggaaa tatctctgag atacattaag taacttaaaa aaaaacttta
1621 cacagtctgc ctagtacatt actatttgga atatatgtgt gcttatttgc atattcataa
1681 tctccctact ttattttctt ttatttttaa ttgatacata atcattatac atatttatgg
1741 gttaaagtgt aatgttttaa tatgtgtaca catattgacc aaatcagggt aattttgcat
1801 ttgtaatttt aaaaaatgct ttcttctttt aatatacttt tttgtttatc ttatttctaa
1861 tactttccct aatctctttc tttcagggca ataatgatac aatgtatcat gcctctttgc
1921 accattctaa agaataacag tgataatttc tgggttaagg caatagcaat atctctgcat
1981 ataaatattt ctgcatataa attgtaactg atgtaagagg tttcatattg ctaatagcag
2041 ctacaatcca gctaccattc tgcttttatt ttatggttgg gataaggctg gattattctg
2101 agtccaagct aggccctttt gctaatcatg ttcatacctc ttatcttcct cccacagctc
2161 ctgggcaacg tgctggtctg tgtgctggcc catcactttg gcaaagaatt caccccacca
2221 gtgcaggctg cctatcagaa agtggtggct ggtgtggcta atgccctggc ccacaagtat
2281 cactaagctc gctttcttgc tgtccaattt ctattaaagg ttcctttgtt ccctaagtcc
2341 aactactaaa ctgggggata ttatgaaggg ccttgagcat ctggattctg cctaataaaa
2401 aacatttatt ttcattgcaa tgatgtattt aaattatttc tgaatatttt actaaaaagg
2461 gaatgtggga ggtcagtgca tttaaaacat aaagaaatga agagctagtt caaaccttgg
2521 gaaaatacac tatatcttaa actccatgaa agaaggtgag gctgcaaaca gctaatgcac
2581 attggcaaca gccctgatac atatgcctta ttcatccctc agaaaaggat tcaagtagag
2641 gcttgatttg gaggttaaag ttttgctatg ctgtatttta cattacttat tgttttagct
2701 gtcctcatga atgtcttttc actacccatt tgcttatcct gcatctctca gccttgactc
2761 cactcagttc tcttgcttag agataccacc tttcccctga agtgttcctt ccatgtttta
2821 cggcgagatg gtttctcctc gcctggccac tcagccttag ttgtctctgt tgtcttatag
2881 aggtctactt gaagaaggaa aaacaggggt catggtttga ctgtcctgtg agcccttctt
2941 ccctgcctcc cccactcaca gtgacccgga atctgcagtg ctagtctccc ggaactatc
//
LOCUS HUMBETGLOL 3000 bp DNA linear PRI 26-AUG-1994
DEFINITION Human haplotype C1 beta-globin gene, complete cds.
ACCESSION L26473
VERSION L26473.1
KEYWORDS beta-globin.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 3000)
AUTHORS Fullerton,S.M., Harding,R.M., Boyce,A.J. and Clegg,J.B.
TITLE Molecular and population genetic analysis of allelic sequence
diversity at the human beta-globin locus
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 91 (5), 1805-1809 (1994)
PUBMED 7907422
FEATURES Location/Qualifiers
source 1..3000
/organism="Homo sapiens"
/mol_type="genomic DNA"
/db_xref="taxon:9606"
/haplotype="C1"
/note="sequence found in a Melanesian population"
variation 111
/replace="c"
variation 263
/note="Rsa I polymorphism"
/replace="c"
variation 273
/replace="c"
variation 285..286
/note="2 bp insertion"
/replace="at"
variation 286
/replace="t"
variation 293..294
/note="1 bp deletion of C or 2 bp deletion of CT"
/replace=""
variation 345
/replace="t"
variation 474
/replace="t"
variation 498
/replace="c"
CDS join(864..955,1086..1308,2159..2287)
/codon_start=1
/product="beta-globin"
/protein_id="AAA21111.1"
/translation="MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFE
SFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPE
NFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH"
exon <864..955
/number=1
variation 872
/replace="c"
intron 956..1085
/number=1
exon 1086..1308
/number=2
intron 1309..2158
/number=2
variation 1324
/note="Ava II polymorphism"
/replace="c"
variation 1382
/replace="g"
variation 1389
/replace="t"
variation 1974
/replace="t"
exon 2159..>2287
/number=3
variation 2520
/replace="c"
variation 2600
/replace="a"
variation 2602
/replace="c"
variation 2758
/note="Hinf I polymorphism"
/replace="t"
variation 2911
/replace="g"
ORIGIN
1 acctcctatt tgacaccact gattacccca ttgatagtca cactttgggt tgtaagtgac
61 tttttattta tttgtatttt tgactgcatt aagaggtctc tagtttttta tctcttgttt
121 cccaaaacct aataagtaac taatgcacag agcacattga tttgtattta ttctattttt
181 agacataatt tattagcatg catgagcaaa ttaagaaaaa caacaacaaa tgaatgcata
241 tatatgtata tgtatgtgtg tatatataca catatatata tatatatttt ttcttttctt
301 accagaaggt tttaatccaa ataaggagaa gatatgctta gaaccgaggt agagttttca
361 tccattctgt cctgtaagta ttttgcatat tctggagacg caggaagaga tccatctaca
421 tatcccaaag ctgaattatg gtagacaaaa ctcttccact tttagtgcat caacttctta
481 tttgtgtaat aagaaaattg ggaaaacgat cttcaatatg cttaccaagc tgtgattcca
541 aatattacgt aaatacactt gcaaaggagg atgtttttag tagcaatttg tactgatggt
601 atggggccaa gagatatatc ttagagggag ggctgagggt ttgaagtcca actcctaagc
661 cagtgccaga agagccaagg acaggtacgg ctgtcatcac ttagacctca ccctgtggag
721 ccacacccta gggttggcca atctactccc aggagcaggg agggcaggag ccagggctgg
781 gcataaaagt cagggcagag ccatctattg cttacatttg cttctgacac aactgtgttc
841 actagcaacc tcaaacagac accatggtgc atctgactcc tgaggagaag tctgccgtta
901 ctgccctgtg gggcaaggtg aacgtggatg aagttggtgg tgaggccctg ggcaggttgg
961 tatcaaggtt acaagacagg tttaaggaga ccaatagaaa ctgggcatgt ggagacagag
1021 aagactcttg ggtttctgat aggcactgac tctctctgcc tattggtcta ttttcccacc
1081 cttaggctgc tggtggtcta cccttggacc cagaggttct ttgagtcctt tggggatctg
1141 tccactcctg atgctgttat gggcaaccct aaggtgaagg ctcatggcaa gaaagtgctc
1201 ggtgccttta gtgatggcct ggctcacctg gacaacctca agggcacctt tgccacactg
1261 agtgagctgc actgtgacaa gctgcacgtg gatcctgaga acttcagggt gagtctatgg
1321 gacgcttgat gttttctttc cccttctttt ctatggttaa gttcatgtca taggaagggg
1381 ataagtaaca gggtacagtt tagaatggga aacagacgaa tgattgcatc agtgtggaag
1441 tctcaggatc gttttagttt cttttatttg ctgttcataa caattgtttt cttttgttta
1501 attcttgctt tctttttttt tcttctccgc aatttttact attatactta atgccttaac
1561 attgtgtata acaaaaggaa atatctctga gatacattaa gtaacttaaa aaaaaacttt
1621 acacagtctg cctagtacat tactatttgg aatatatgtg tgcttatttg catattcata
1681 atctccctac tttattttct tttattttta attgatacat aatcattata catatttatg
1741 ggttaaagtg taatgtttta atatgtgtac acatattgac caaatcaggg taattttgca
1801 tttgtaattt taaaaaatgc tttcttcttt taatatactt ttttgtttat cttatttcta
1861 atactttccc taatctcttt ctttcagggc aataatgata caatgtatca tgcctctttg
1921 caccattcta aagaataaca gtgataattt ctgggttaag gcaatagcaa tatctctgca
1981 tataaatatt tctgcatata aattgtaact gatgtaagag gtttcatatt gctaatagca
2041 gctacaatcc agctaccatt ctgcttttat tttatggttg ggataaggct ggattattct
2101 gagtccaagc taggcccttt tgctaatcat gttcatacct cttatcttcc tcccacagct
2161 cctgggcaac gtgctggtct gtgtgctggc ccatcacttt ggcaaagaat tcaccccacc
2221 agtgcaggct gcctatcaga aagtggtggc tggtgtggct aatgccctgg cccacaagta
2281 tcactaagct cgctttcttg ctgtccaatt tctattaaag gttcctttgt tccctaagtc
2341 caactactaa actgggggat attatgaagg gccttgagca tctggattct gcctaataaa
2401 aaacatttat tttcattgca atgatgtatt taaattattt ctgaatattt tactaaaaag
2461 ggaatgtggg aggtcagtgc atttaaaaca taaagaaatg aagagctagt tcaaaccttg
2521 ggaaaataca ctatatctta aactccatga aagaaggtga ggctgcaaac agctaatgca
2581 cattggcaac agccctgatg catatgcctt attcatccct cagaaaagga ttcaagtaga
2641 ggcttgattt ggaggttaaa gttttgctat gctgtatttt acattactta ttgttttagc
2701 tgtcctcatg aatgtctttt cactacccat ttgcttatcc tgcatctctc agccttgact
2761 ccactcagtt ctcttgctta gagataccac ctttcccctg aagtgttcct tccatgtttt
2821 acggcgagat ggtttctcct cgcctggcca ctcagcctta gttgtctctg ttgtcttata
2881 gaggtctact tgaagaagga aaaacagggg tcatggtttg actgtcctgt gagcccttct
2941 tccctgcctc ccccactcac agtgacccgg aatctgcagt gctagtctcc cggaactatc
//
LOCUS HUMBETGLOK 3000 bp DNA linear PRI 26-AUG-1994
DEFINITION Human haplotype B6 beta-globin gene, complete cds.
ACCESSION L26472
VERSION L26472.1
KEYWORDS beta-globin.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 3000)
AUTHORS Fullerton,S.M., Harding,R.M., Boyce,A.J. and Clegg,J.B.
TITLE Molecular and population genetic analysis of allelic sequence
diversity at the human beta-globin locus
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 91 (5), 1805-1809 (1994)
PUBMED 7907422
FEATURES Location/Qualifiers
source 1..3000
/organism="Homo sapiens"
/mol_type="genomic DNA"
/db_xref="taxon:9606"
/haplotype="B6"
/note="sequence found in a Melanesian population"
variation 111
/replace="c"
variation 263
/note="Rsa I polymorphism"
/replace="c"
variation 273
/replace="c"
variation 286..287
/note="2 bp insertion of AT"
/replace=""
variation 288
/replace="t"
variation 295..296
/note="2 bp deletion"
/replace="ct"
variation 345
/replace="c"
variation 474
/replace="t"
variation 498
/replace="c"
CDS join(864..955,1086..1308,2159..2287)
/codon_start=1
/product="beta-globin"
/protein_id="AAA21110.1"
/translation="MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFE
SFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPE
NFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH"
exon <864..955