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EBI Dbfetch

ID   AJ532609; SV 1; linear; genomic DNA; STD; HUM; 3393 BP.
XX
AC   AJ532609;
XX
DT   11-JAN-2003 (Rel. 74, Created)
DT   17-JUN-2008 (Rel. 96, Last updated, Version 4)
XX
DE   Homo sapiens HLA-B gene for MHC class I antigen, HLA-B*08 null variant
DE   allele, exons 1-4
XX
KW   HLA-B gene; HLA-B*08 null variant allele; human leucocyte antigen B;
KW   major histocompatibility complex; MHC class I antigen.
XX
OS   Homo sapiens (human)
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
XX
RN   [1]
RP   1-3393
RA   Dunn P.P.;
RT   ;
RL   Submitted (04-DEC-2002) to the INSDC.
RL   Dunn P.P., H & I DNA Reference Laboratory, National Blood Service,
RL   Southmead Road, Bristol, BS10 5ND, UNITED KINGDOM.
XX
RN   [2]
RA   Hammond L., Downing J., Dunn P.P., Darke C.;
RT   "Characterization of four new HLA null alleles identified by disparities
RT   between serological and molecular typing of 6,000 potential Welsh bone
RT   marrow donors";
RL   Unpublished.
XX
DR   MD5; 22a774cef8ef70f4449f3c4d846d2d30.
DR   Ensembl-Gn; ENSG00000223532; homo_sapiens.
DR   Ensembl-Tr; ENST00000425848; homo_sapiens.
XX
FH   Key             Location/Qualifiers
FH
FT   source          1..3393
FT                   /organism="Homo sapiens"
FT                   /chromosome="6"
FT                   /mol_type="genomic DNA"
FT                   /haplotype="HLA-A*01,*68;B*0801,*40;Cw*0304,*07"
FT                   /note="HLA-B8 null by serology but B*0801 by PCR-SSP"
FT                   /db_xref="taxon:9606"
FT   CDS             join(326..398,527..796,1043..1318,1891..1997)
FT                   /gene="HLA-B"
FT                   /allele="HLA-B*08 null variant"
FT                   /product="MHC class I antigen"
FT                   /function="antigen presenting molecule"
FT                   /db_xref="GOA:Q861B6"
FT                   /db_xref="IMGT/HLA:B*08:19N"
FT                   /db_xref="InterPro:IPR001039"
FT                   /db_xref="InterPro:IPR007110"
FT                   /db_xref="InterPro:IPR011161"
FT                   /db_xref="InterPro:IPR011162"
FT                   /db_xref="InterPro:IPR013783"
FT                   /db_xref="InterPro:IPR027648"
FT                   /db_xref="UniProtKB/TrEMBL:Q861B6"
FT                   /protein_id="CAD58885.1"
FT                   /translation="MLVMAPRTVLLLLSAALALTETWAGSHSMRYFDTAMSRPGRGEPR
FT                   FISVGYVDDTQFVRFDSDAASPREEPRAPWIEQEGPEYWDRNTQIFKTNTQTDRESLRN
FT                   LRGYYNQSEAGSHTLQSMYGCDVGPDGRLLRGHNQYAYDGKDYIALNEDLRSWTAADTA
FT                   AQITQRKWEAARVAEQDRAYLEGTCVEWLRRYLENGKDTLERADPPKTHVTHHPISDHE
FT                   ATLRCWALGFYPAEITLTW"
FT   exon            <326..398
FT                   /gene="HLA-B"
FT                   /allele="HLA-B*08 null variant"
FT                   /number=1
FT   intron          399..526
FT                   /gene="HLA-B"
FT                   /allele="HLA-B*08 null variant"
FT                   /number=1
FT   exon            527..796
FT                   /gene="HLA-B"
FT                   /allele="HLA-B*08 null variant"
FT                   /number=2
FT   intron          797..1042
FT                   /gene="HLA-B"
FT                   /allele="HLA-B*08 null variant"
FT                   /number=2
FT   exon            1043..1318
FT                   /gene="HLA-B"
FT                   /allele="HLA-B*08 null variant"
FT                   /number=3
FT   intron          1319..1890
FT                   /gene="HLA-B"
FT                   /allele="HLA-B*08 null variant"
FT                   /number=3
FT   exon            1891..>1997
FT                   /gene="HLA-B"
FT                   /allele="HLA-B*08 null variant"
FT                   /number=4
XX
SQ   Sequence 3393 BP; 628 A; 984 C; 1072 G; 709 T; 0 other;
     ggcagacagt gtgacaaaga ggcttggtgt aggagaagag ggatcaggac gaagtcccag        60
     gtcccggacg gggctctcag ggtctcaggc tccgagggcc gcgtctgcaa tggggaggcg       120
     cagcgttggg gattccccac tcccctgagt ttcacttctt ctcccaactt gtgtcgggtc       180
     cttcttccag gatactcgtg acgcatcccc acttcccact cccattgggt gtcggatatc       240
     tagagaagcc aatcagcgtc gccggggtcc cagttctaaa gtccccacgc acccacccgg       300
     actcagagtc tcctcagacg ccgagatgct ggtcatggcg ccccgaaccg tcctcctgct       360
     gctctcggcg gccctggccc tgaccgagac ctgggccggt gagtgcgggt cgggagggaa       420
     atggcctctg ccgggaggag cgaggggacc gcaggcgggg gcgcaggacc tgaggagccg       480
     cgccgggagg agggtcgggc gggtctcagc ccctcctcgc ccccaggctc ccactccatg       540
     aggtatttcg acaccgccat gtcccggccc ggccgcgggg agccccgctt catctcagtg       600
     ggctacgtgg acgacacgca gttcgtgagg ttcgacagcg acgccgcgag tccgagagag       660
     gagccgcggg cgccgtggat agagcaggag gggccggagt attgggaccg gaacacacag       720
     atcttcaaga ccaacacaca gactgaccga gagagcctgc ggaacctgcg cggctactac       780
     aaccagagcg aggccggtga gtgaccccgg cccggggcgc aggtcacgac tccccatccc       840
     ccacggacgg cccgggtcgc cccgagtctc cgggtccgag atccgcctcc ctgaggccgc       900
     gggacccgcc cagaccctcg accggcgaga gccccaggcg cgtttacccg gtttcatttt       960
     cagttgaggc caaaatcccc gcgggttggt cggggcgggg cggggctcgg ggggacgggg      1020
     ctgaccgcgg ggccggggcc agggtctcac accctccaga gcatgtacgg ctgcgacgtg      1080
     gggccggacg ggcgcctcct ccgcgggcat aaccagtacg cctacgacgg caaggattac      1140
     atcgccctga acgaggacct gcgctcctgg accgcggcgg acaccgcggc tcagatcacc      1200
     cagcgcaagt gggaggcggc ccgtgtggcg gagcaggaca gagcctacct ggagggcacg      1260
     tgcgtggagt ggctccgcag atacctggag aacgggaagg acacgctgga gcgcgcgggt      1320
     accaggggca gtggggagcc ttccccatct cctataggtc gccggggatg gcctcccacg      1380
     agaagaggag gaaaatggga tcagcgctag aatgtcgccc tcccttgaat ggagaatggc      1440
     atgagttttc ctgagtttcc tctgagggcc ccctcttctc tctagacaat taagggatga      1500
     cgtctctgag gaaatggagg ggaagacagt ccctagaata ctgatcaggg gtcccctttg      1560
     acccctgcag cagccttggg aaccgtgact tttcctctca ggccttgttc tctgcctcac      1620
     actcagtgtg tttggggctc tgattccagc acttctgagt cactttacct ccactcagat      1680
     caggagcaga agtccctgtt ccccgctcag agactcgaac tttccaatga ataggagatt      1740
     atcccaggtg cctgcatccg ctggtgtctg ggttctgtgc cccttcccca ccccaggtgt      1800
     cctgtccatt ctcaggctgg tcacatgggt ggtcctaggg tgtcccatga gagatgcaaa      1860
     gcgcctgaat tttctgactc ttcccatcag accccccaaa gacacacgtg acccaccacc      1920
     ccatctctga ccatgaggcc accctgaggt gctgggccct gggcttctac cctgcggaga      1980
     tcacactgac ctggtagcgg gatggcgagg accaaactca ggacactgag cttgtggaga      2040
     ccagaccagc aggagataga accttccaga agtgggcagc tgtggtggtg ccttctggag      2100
     aagagcagag atacacatgc catgtacagc atgaggggct gccgaagccc ctcaccctga      2160
     gatggggtaa ggagggggat gaggggtcat atctcttctc agggaaagca ggagcccttc      2220
     agcagggtca gggcccctca tcttcccctc ctttcccaga gccgtcttcc cagtccaccg      2280
     tccccatcgt gggcattgtt gctggcctgg ctgtcctagc agttgtggtc atcggagctg      2340
     tggtcgctgc tgtgatgtgt aggaggaaga gctcaggtag ggaaggggtg aggggtgggg      2400
     tctgggtttt cttgtcccac tgggggtttc aagccccagg tagaagtgtt ccctgcctca      2460
     ttactgggat gcagcatcca cacaggggct aacgcagcct gggaccctgt gtgccagcac      2520
     ttactctttt gtgcagcaca tgtgacaatg aaggacggat gtatcacctt ggtggttgtg      2580
     gtgttggggt cctgattcca gcattcatga gtcaggggaa ggtccctgct aaggacagac      2640
     cttaggaggg cagttggtcc aggacccaca cttgctttcc tcgtgtttcc tgatcctgcc      2700
     ttgggtctgt agtcatactt ctggaaattc cttttgggtc caagacgagg aggttcctct      2760
     aagatctcat ggccctgctt cctcccagtc ccctcacagg gcattttctt cccacaggtg      2820
     gaaaaggagg gagctactct caggctgcgt gtaagtgatg ggggtgggag tgtggaggag      2880
     ctcacccacc ccataattcc tcctgtccca cgtctcctgc gggctctgac caggtcctgt      2940
     ttttgttcta ctccaggcag cgacagtgcc cagggctctg atgtgtctct cacagcttga      3000
     aaaggtgaga ttcttggggt ctagagtggg tggggtggcg ggtctggggg tgggtggggc      3060
     agtggggaaa ggcctgggta atggagattc tttgattggg atgtttcgcg tgtgtggtgg      3120
     gctgtttaga gtgtcatcac ttaccatgac taaccagaat ttgttcatga ctgttgtttt      3180
     ctgtagcctg agacagctgt cttgtgaggg actgagatgc aggatttctt cacgcctccc      3240
     ctttgtgact tcaagagcct ctggcatctc tttctgcaaa ggcacctgaa tgtgtctgcg      3300
     tccctgttag cataatgtga ggaggtggag agacagccca cccttgtgtc cactgtgacc      3360
     ccgttcccat gctgacctgt gtttcctccc cag                                   3393
//


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