About: CASP8*1 Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • CASP8*1 Allele
rdfs:subClassOf
OMIM_Number
  • 601763
GenBank_Accession_Number
  • NM_001228
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CASP8*1 Allele
UMLS_CUI
  • C2347242
SNP_ID
  • rs1045485
EntrezGene_ID
  • 841
Legacy_Concept_Name
  • CASP8_1_Allele
FULL_SYN
  • CASP8, D302HSYNCI
  • CASP8*1 AllelePTNCI
  • Caspase 8, Apoptosis-Related Cysteine Protease*1 AlleleSYNCI
  • CASP8, c. 1207G>CSYNCI
DEFINITION
  • Human CASP8*1 allele is a variant form of the CASP8 gene which is located within 2q33-q34 and is approximately 54 kb in length. The wild-type allele, which encodes caspase-8 protein, is involved in apoptosis regulation. CASP8*1 allele exhibits a SNP (c.1207G>C) that results in a D302H coding change, which may reduce the activity of the encoded protein. This variant may reduce the incidence of breast cancer in subjects who carry this allele.NCI
code
  • C68810
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