Terminology Service for NFDI4Health

CYP2C19*12 Allele

Go to external page http://purl.obolibrary.org/obo/NCIT_C46013


Human CYP2C19*12 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*12 protein. The CYP2C19*12 allele exhibits a clinically-relevant SNP (c.1473A>C) in exon 9 that results in a X491C coding change. This alteration yields an unstable cytochrome P450 2C19*12 protein that is predicted to have an additional 26 amino acids. [ ]

Term info

Label

CYP2C19*12 Allele

Synonyms
  • CYP2C19*12
  • CYP2C19*12 Allele
  • CYP2C19, X491C
  • CYP2C19, c.1473A>C
  • Cytochrome P450, Family 2, Subfamily C, Polypeptide 19*12 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

Ethnicity Association: African American

Display Name

CYP2C19*12 Allele

Gene Encodes Product

Cytochrome P450 2C19

Legacy Concept Name

CYP2C19_12_Allele

OMIM Number

124020

Preferred Name

CYP2C19*12 Allele

Semantic Type

Gene or Genome

UMLS CUI

C1707179

code

C46013