LOCUS       S56543                   288 bp    mRNA    linear   HUM 28-JUN-1993
DEFINITION  SRY=male gonadal sex-determining locus [human, 46,XY individual,
            mRNA Partial Mutant, 288 nt].
ACCESSION   S56543
VERSION     S56543.1
KEYWORDS    .
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 288)
  AUTHORS   Braun,A., Kammerer,S., Cleve,H., Lohrs,U., Schwarz,H.P. and
            Kuhnle,U.
  TITLE     True hermaphroditism in a 46,XY individual, caused by a postzygotic
            somatic point mutation in the male gonadal sex-determining locus
            (SRY): molecular genetics and histological findings in a sporadic
            case
  JOURNAL   Am. J. Hum. Genet. 52 (3), 578-585 (1993)
   PUBMED   8447323
  REMARK    GenBank staff at the National Library of Medicine created this
            entry [NCBI gibbsq 126880] from the original journal article.
FEATURES             Location/Qualifiers
     source          1..288
                     /db_xref="H-InvDB:HIT000215823"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
     gene            1..288
                     /gene="SRY"
                     /note="male gonadal sex-determining locus"
     CDS             1..288
                     /gene="SRY"
                     /note="male gonadal sex-determining locus"
                     /codon_start=1
                     /protein_id="AAB25716.1"
                     /translation="VQDRVKRPMNAFIVWSRDQRRKMALENPRMRNSEISKQLGYQWK
                     MHTEAEKWPFFQEAQKLQAMHREKYPNYKYRPRRKAKMLPKNCSLLPADPAS"
BASE COUNT           89 a           70 c           77 g           52 t
ORIGIN      
        1 gtccaggata gagtgaagcg acccatgaac gcattcatcg tgtggtctcg cgatcagagg
       61 cgcaagatgg ccctagagaa tcccagaatg cgaaactcag agatcagcaa gcagctggga
      121 taccagtgga aaatgcatac tgaagccgaa aaatggccat tcttccagga ggcacagaaa
      181 ttacaggcca tgcacagaga gaaatacccg aattataagt atcgacctcg tcggaaggcg
      241 aagatgctgc cgaagaattg cagtttgctt cccgcagatc ccgcttcg
//