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EBI Dbfetch

ID   AM422608; SV 1; linear; genomic DNA; STD; HUM; 276 BP.
XX
AC   AM422608;
XX
DT   15-JAN-2007 (Rel. 90, Created)
DT   08-AUG-2008 (Rel. 96, Last updated, Version 3)
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DE   Homo sapiens partial HLA-A gene for MHC class I antigen, HLA*02new allele,
DE   exon 4, isolate 4214678
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KW   HLA*02new allele; HLA-A gene; human leucocyte antigen A;
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   1-276
RA   Hammond L.;
RT   ;
RL   Submitted (11-JAN-2007) to the INSDC.
RL   Hammond L., Tissue Typing, Molecular Genetics, New Zealand Blood Service,
RL   Private Bag 92071 Auckland Mail Centre, Auckland 1142, NEW ZEALAND.
XX
RN   [2]
RX   DOI; 10.1111/j.1399-0039.2008.01080.x.
RX   PUBMED; 18721279.
RA   Hammond L., Limmer M., Dyer C.R., Rantes C.H., Dunn P.P.J.;
RT   "A new HLA-A*02 null allele, HLA-A*9213N";
RL   Tissue Antigens 72(2):176-177(2008).
XX
DR   MD5; ce81db5abc51887626837e622d4c6bf3.
DR   Ensembl-Gn; ENSG00000227715; homo_sapiens.
DR   Ensembl-Gn; ENSG00000235657; homo_sapiens.
DR   Ensembl-Tr; ENST00000413609; homo_sapiens.
DR   Ensembl-Tr; ENST00000438861; homo_sapiens.
DR   Ensembl-Tr; ENST00000453057; homo_sapiens.
DR   Ensembl-Tr; ENST00000453975; homo_sapiens.
DR   Ensembl-Tr; ENST00000455882; homo_sapiens.
DR   Ensembl-Tr; ENST00000457879; homo_sapiens.
DR   Ensembl-Tr; ENST00000547271; homo_sapiens.
DR   Ensembl-Tr; ENST00000547522; homo_sapiens.
DR   Ensembl-Tr; ENST00000611149; homo_sapiens.
XX
FH   Key             Location/Qualifiers
FH
FT   source          1..276
FT                   /organism="Homo sapiens"
FT                   /chromosome="6"
FT                   /isolate="4214678"
FT                   /mol_type="genomic DNA"
FT                   /cell_type="mixed leucocytes"
FT                   /tissue_type="peripheral blood"
FT                   /note="new HLA-A*02null allele resulting from G-A at nt251
FT                   resulting in premature stop at codon 60 in exon 2"
FT                   /db_xref="taxon:9606"
FT   CDS             <1..>276
FT                   /codon_start=3
FT                   /gene="HLA-A"
FT                   /allele="HLA*02new"
FT                   /product="MHC class I antigen"
FT                   /function="antigen presenting molecule"
FT                   /note="No HLA-A2 antigen detected by serology on two
FT                   occasions"
FT                   /db_xref="IMGT/HLA:A*02:113N"
FT                   /db_xref="InterPro:IPR003006"
FT                   /db_xref="InterPro:IPR003597"
FT                   /db_xref="InterPro:IPR007110"
FT                   /db_xref="InterPro:IPR013783"
FT                   /db_xref="UniProtKB/TrEMBL:A2BCQ5"
FT                   /protein_id="CAM12703.1"
FT                   /translation="APKTHMTHHAVSDHEATLRCWALSFYPAEITLTWQRDGEDQTQDT
FT                   ELVETRPAGDGTFQKWAAVVVPSGQEQRYTCHVQHEGLPKPLTLRW"
FT   exon            1..276
FT                   /gene="HLA-A"
FT                   /allele="A*02new"
FT                   /number=4
XX
SQ   Sequence 276 BP; 60 A; 83 C; 88 G; 45 T; 0 other;
     acgcccccaa aacgcatatg actcaccacg ctgtctctga ccatgaagcc accctgaggt        60
     gctgggccct gagcttctac cctgcggaga tcacactgac ctggcagcgg gatggggagg       120
     accagaccca ggacacggag ctcgtggaga ccaggcctgc aggggatgga accttccaga       180
     agtgggcggc tgtggtggtg ccttctggac aggagcagag atacacctgc catgtgcagc       240
     atgagggttt gcccaagccc ctcaccctga gatggg                                 276
//


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