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CYP2C19*3 Allele

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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. [ ]

Term info

Label

CYP2C19*3 Allele

Synonyms
  • CYP2C19*3
  • CYP2C19*3 Allele
  • CYP2C19, W212X
  • CYP2C19, c.636G>A
  • CYP2C19, m2
  • Cytochrome P450, Family 2, Subfamily C, Polypeptide 19*3 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

Ethnicity Association: Asian

Display Name

CYP2C19*3 Allele

Gene Encodes Product

Cytochrome P450 2C19

Legacy Concept Name

CYP2C19_3_Allele

OMIM Number

124020

Preferred Name

CYP2C19*3 Allele

SNP ID

rs4986893

Semantic Type

Gene or Genome

UMLS CUI

C1707182

code

C45606