LOCUS       S53156                   424 bp    mRNA    linear   HUM 24-JUL-2016
DEFINITION  SRY (SRYF109S)=testis-determining factor [human, XY female, mRNA
            Partial Mutant, 424 nt].
ACCESSION   S53156
VERSION     S53156.1
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 424)
  AUTHORS   Jager,R.J., Harley,V.R., Pfeiffer,R.A., Goodfellow,P.N. and
            Scherer,G.
  TITLE     A familial mutation in the testis-determining gene SRY shared by
            both sexes
  JOURNAL   Hum. Genet. 90 (4), 350-355 (1992)
   PUBMED   1483689
  REMARK    GenBank staff at the National Library of Medicine created this
            entry [NCBI gibbsq 122896] from the original journal article.
COMMENT     T to C transition at position 736.
FEATURES             Location/Qualifiers
     source          1..424
                     /db_xref="H-InvDB:HIT000215721"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
     gene            1..424
                     /gene="SRY"
                     /allele="SRYF109S"
                     /note="testis-determining factor, TDF"
     CDS             2..424
                     /gene="SRY"
                     /allele="SRYF109S"
                     /note="F to S conversion at position 109; TDF"
                     /codon_start=1
                     /product="testis-determining factor"
                     /protein_id="AAB25008.1"
                     /translation="NIPALRRSSSFLCTESCNSKYQCETGENSKGNVQDRVKRPMNAF
                     IVWSRDQRRKMALENPRMRNSEISKQLGYQWKMLTEAEKWPSFQEAQKLQAMHREKYP
                     NYKYRPRRKAKMLPKNCSLLPADPASVLCSEVQLDNRLY"
BASE COUNT          129 a          102 c          109 g           84 t
ORIGIN      
        1 gaatattccc gctctccgga gaagctcttc cttcctttgc actgaaagct gtaactctaa
       61 gtatcagtgt gaaacgggag aaaacagtaa aggcaacgtc caggatagag tgaagcgacc
      121 catgaacgca ttcatcgtgt ggtctcgcga tcagaggcgc aagatggctc tagagaatcc
      181 cagaatgcga aactcagaga tcagcaagca gctgggatac cagtggaaaa tgcttactga
      241 agccgaaaaa tggccatcct tccaggaggc acagaaatta caggccatgc acagagagaa
      301 atacccgaat tataagtatc gacctcgtcg gaaggcgaag atgctgccga agaattgcag
      361 tttgcttccc gcagatcccg cttcggtact ctgcagcgaa gtgcaactgg acaacaggtt
      421 gtac
//