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EBI Dbfetch

ID   AM048844; SV 1; linear; genomic DNA; STD; HUM; 907 BP.
XX
AC   AM048844;
XX
DT   12-JUL-2005 (Rel. 84, Created)
DT   17-JUN-2008 (Rel. 96, Last updated, Version 3)
XX
DE   Homo sapiens partial HLA-B gene for truncated MHC class I antigen, allele
DE   HLA-B*15010102N, exons 2-3
XX
KW   HLA-B gene; HLA-B*15010102N 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   1-907
RA   Hammond L.;
RT   ;
RL   Submitted (04-JUL-2005) to the INSDC.
RL   Hammond L., Molecular Genetics, Welsh Transplant & Immunogentics Lab, Ely
RL   Valley Road, Pontyclun, Talbot Green, CF72 9WB, UNITED KINGDOM.
XX
RN   [2]
RA   Hammond L., Street J., Darke C.;
RT   "Characterisation of HLA class I expression variants identified by
RT   discrepancies between molecular and serological typing.";
RL   Unpublished.
XX
DR   MD5; 16b6287fd024af5509a1dbf326c0981b.
XX
FH   Key             Location/Qualifiers
FH
FT   source          1..907
FT                   /organism="Homo sapiens"
FT                   /chromosome="6"
FT                   /isolate="12124354"
FT                   /mol_type="genomic DNA"
FT                   /cell_type="leucocyte"
FT                   /tissue_type="peripheral blood"
FT                   /note="buffy coat preparation"
FT                   /db_xref="taxon:9606"
FT   intron          <1..51
FT                   /gene="HLA-B"
FT                   /allele="B*15010102N"
FT                   /number=1
FT   variation       35
FT                   /replace="cgggtctcag"
FT   mRNA            join(<52..321,567..>842)
FT                   /gene="HLA-B"
FT                   /allele="B*15010102N"
FT   CDS             <52..66
FT                   /codon_start=1
FT                   /gene="HLA-B"
FT                   /allele="B*15010102N"
FT                   /product="truncated class I antigen"
FT                   /function="antigen presentation"
FT                   /note="10 bp deletion at position 35 intron 1 results in
FT                   abberant splicing and premature stop codon position 64-66
FT                   exon 2"
FT                   /db_xref="IMGT/HLA:B*15:01:01:02N"
FT                   /protein_id="CAJ15295.1"
FT                   /translation="APTP"
FT   exon            52..321
FT                   /gene="HLA-B"
FT                   /allele="B*15010102N"
FT                   /number=2
FT   intron          322..566
FT                   /gene="HLA-B"
FT                   /allele="B*15010102N"
FT                   /number=2
FT   exon            567..842
FT                   /gene="HLA-B"
FT                   /allele="B*15010102N"
FT                   /number=3
FT   intron          843..>907
FT                   /gene="HLA-B"
FT                   /allele="B*15010102N"
FT                   /number=3
XX
SQ   Sequence 907 BP; 157 A; 306 C; 327 G; 117 T; 0 other;
     ggacccgggg agccgcgccg ggaggagggt cgggcccctc ctcgccccca ggctcccact        60
     ccatgaggta tttctacacc gccatgtccc ggcccggccg cggggagccc cgcttcatcg       120
     cagtgggcta cgtggacgac acccagttcg tgaggttcga cagcgacgcc gcgagtccga       180
     ggatggcgcc ccgggcgcca tggatagagc aggaggggcc ggagtattgg gaccgggaga       240
     cacagatctc caagaccaac acacagactt accgagagag cctgcggaac ctgcgcggct       300
     actacaacca gagcgaggcc ggtgagtgac cccggcctgg ggcgcaggtc acgactcccc       360
     atcccccacg tacggcccgg gtcgccccga gtctccgggt ccgagatccg cccccctgag       420
     gccgcgggac ccgcccaaac cctcgaccgg cgagagcccc aggcgcgttt acccggtttc       480
     attttcagtt gaggccaaaa tccccgcggg ttggtcgggg cggggcgggg ctcgggggac       540
     ggggctgacc gcggggcctg ggccagggtc tcacaccctc cagaggatgt acggctgcga       600
     cgtggggccg gacgggcgcc tcctccgcgg gcatgaccag tccgcctacg acggcaagga       660
     ttacatcgcc ctgaacgagg acctgagctc ctggaccgcg gcggacacgg cggctcagat       720
     cacccagcgc aagtgggagg cggcccgtga ggcggagcag tggagagcct acctggaggg       780
     cctgtgcgtg gagtggctcc gcagatacct ggagaacggg aaggagacgc tgcagcgcgc       840
     gggtaccagg ggcagtgggg agccttcccc atctcctata ggtcgccggg gatggcctcc       900
     cacgaga                                                                 907
//


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