About: CYP2C19*3 Allele     Goto   Sponge   Distinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • CYP2C19*3 Allele
rdfs:subClassOf
OMIM_Number
  • 124020
GenBank_Accession_Number
  • NM_000769
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CYP2C19*3 Allele
PubMedID_Primary_Reference
  • 7969038
UMLS_CUI
  • C1707182
SNP_ID
  • rs4986893
Legacy_Concept_Name
  • CYP2C19_3_Allele
FULL_SYN
  • CYP2C19, m2SYNCI
  • Cytochrome P450, Family 2, Subfamily C, Polypeptide 19*3 AlleleSYNCI
  • CYP2C19, W212XSYNCI
  • CYP2C19*3 AllelePTNCI
  • CYP2C19, c.636G>ASYNCI
  • CYP2C19*3SYNCI
Gene_Encodes_Product
  • Cytochrome P450 2C19
DEFINITION
  • Human CYP2C19*3 allele is located within 10q24.1-q24.3 and is approximately 90 kb in length. This allele, a variant form of the CYP2C19 wild-type allele, encodes cytochrome P450 2C19*3 protein. The CYP2C19*3 allele exhibits a clinically-relevant SNP (c.636G>A) in exon 3 that results in a W212X coding change. This alteration in protein sequence abolishes the enzymatic activity of the cytochrome P450 2C19*3 protein.NCI
DesignNote
  • Ethnicity Association: Asian
code
  • C45606
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