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 //