Terminology Service for NFDI4Health

CYP2C19*10 Allele

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Human CYP2C19*10 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*10 protein. The CYP2C19*10 allele exhibits a clinically-relevant SNP (c.680C>T) in exon 5 that results in a P227L coding change. This alteration in protein sequence severely decreases the enzymatic activity of the cytochrome P450 2C19*10 protein. [ ]

Term info

Label

CYP2C19*10 Allele

Synonyms
  • CYP2C19*10
  • CYP2C19*10 Allele
  • CYP2C19, P227L
  • CYP2C19, c.680C>T
  • Cytochrome P450, Family 2, Subfamily C, Polypeptide 19*10 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

Ethnicity Association: African American

Display Name

CYP2C19*10 Allele

Gene Encodes Product

Cytochrome P450 2C19

Legacy Concept Name

CYP2C19_10_Allele

OMIM Number

124020

Preferred Name

CYP2C19*10 Allele

SNP ID

rs6413438

Semantic Type

Gene or Genome

UMLS CUI

C1707178

code

C46012