Dbfetch

ID   HM590628; SV 1; linear; genomic DNA; STD; HUM; 269 BP.
XX
AC   HM590628;
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DT   19-NOV-2010 (Rel. 106, Created)
DT   27-APR-2012 (Rel. 112, Last updated, Version 2)
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DE   Homo sapiens truncated MHC class II antigen (HLA-DRB1) gene, HLA-DRB1*0101
DE   variant allele, exon 2 and partial cds.
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KW   .
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OS   Homo sapiens (human)
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
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RN   [1]
RP   1-269
RX   DOI; 10.1111/j.1399-0039.2011.01742.x.
RX   PUBMED; 21812764.
RA   Zimmerman A., Spruit L.S., Herczyk W., Marino S.R.;
RT   "A single nucleotide deletion in exon 2 produces a novel null allele,
RT   HLA-DRB1*01:33N";
RL   Tissue Antigens 78(6):463-464(2011).
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RN   [2]
RP   1-269
RA   Marino S.R., Zimmerman A.A., Spruit L.K.;
RT   ;
RL   Submitted (25-JUN-2010) to the INSDC.
RL   Pathology, University of Chicago, 5841 South Maryland Avenue, Chicago, IL
RL   60637, USA
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DR   MD5; 2686acf1809d5fdb6d817be426bea23e.
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FH   Key             Location/Qualifiers
FH
FT   source          1..269
FT                   /organism="Homo sapiens"
FT                   /mol_type="genomic DNA"
FT                   /db_xref="taxon:9606"
FT   gene            <1..>269
FT                   /gene="HLA-DRB1"
FT                   /allele="HLA-DRB1*0101 variant"
FT   exon            1..269
FT                   /gene="HLA-DRB1"
FT                   /allele="HLA-DRB1*0101 variant"
FT                   /number=2
FT   mRNA            <1..>137
FT                   /gene="HLA-DRB1"
FT                   /allele="HLA-DRB1*0101 variant"
FT                   /product="truncated MHC class II antigen"
FT   CDS             <1..137
FT                   /codon_start=3
FT                   /gene="HLA-DRB1"
FT                   /allele="HLA-DRB1*0101 variant"
FT                   /product="truncated MHC class II antigen"
FT                   /db_xref="IMGT/HLA:DRB1*01:33N"
FT                   /db_xref="UniProtKB/TrEMBL:E5FPU1"
FT                   /protein_id="ADP94163.1"
FT                   /translation="RFLWQLNLNVISSMGRSGCGCWKDASITKRSPCASTATWGSTGR"
FT   variation       22^23
FT                   /gene="HLA-DRB1"
FT                   /replace="g"
FT                   /note="truncated protein is produced due to deletion"
XX
SQ   Sequence 269 BP; 58 A; 62 C; 98 G; 51 T; 0 other;
     cacgtttctt gtggcagctt aatttgaatg tcatttcttc aatgggacgg agcgggtgcg        60
     gttgctggaa agatgcatct ataaccaaga ggagtccgtg cgcttcgaca gcgacgtggg       120
     ggagtaccgg gcggtgacgg agctggggcg gcctgatgcc gagtactgga acagccagaa       180
     ggacctcctg gagcagaggc gggccgcggt ggacacctac tgcagacaca actacggggt       240
     tggtgagagc ttcacagtgc agcggcgag                                         269
//