About: FSHR wt Allele     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • FSHR wt Allele
rdfs:subClassOf
OMIM_Number
  • 136435
GenBank_Accession_Number
  • NM_000145
Semantic_Type
  • Gene or Genome
Preferred_Name
  • FSHR wt Allele
UMLS_CUI
  • C2986690
EntrezGene_ID
  • 2492
HGNC_ID
  • HGNC:3969
FULL_SYN
  • FSHR wt AllelePTNCI
  • ODG1SYNCI
  • LGR1SYNCI
  • Follicle Stimulating Hormone Receptor wt AlleleSYNCI
  • FSHROSYNCI
  • MGC141667SYNCI
  • MGC141668SYNCI
DEFINITION
  • Human FSHR wild-type allele is located within 2p21-p16 and is approximately 192 kb in length. This allele, which encodes follicle-stimulating hormone receptor protein, plays a role in the regulation of female gamete generation, hormone signaling and gonad development. Mutation of the gene is associated with both ovarian dysgenesis type 1 and ovarian hyperstimulation syndrome.NCI
code
  • C94808
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