Terminology Service for NFDI4Health

CYP2C9*8 Allele

Go to external page http://purl.obolibrary.org/obo/NCIT_C46015


Human CYP2C9*8 allele is located within 10q24 and is approximately 33 kb in length. This allele, a variant form of the CYP2C9 wild-type allele, encodes cytochrome P450 2C9*8 protein. The CYP2C9*8 allele exhibits a clinically-relevant SNP (c.449G>A) in exon 3 that results in a R150H coding change. This alteration in protein sequence increases the enzymatic activity of the cytochrome P450 2C9*8 protein. [ ]

Term info

Label

CYP2C9*8 Allele

Synonyms
  • CYP2C9*8
  • CYP2C9*8 Allele
  • CYP2C9, R150H
  • CYP2C9, c.449G>A
  • Cytochrome P450, Family 2, Subfamily C, Polypeptide 9*8 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

Ethnicity Association: African American; Black African

Display Name

CYP2C9*8 Allele

Gene Encodes Product

Cytochrome P450 2C8

Legacy Concept Name

CYP2C9_8_Allele

OMIM Number

601130

Preferred Name

CYP2C9*8 Allele

SNP ID

rs7900194

Semantic Type

Gene or Genome

UMLS CUI

C1707206

code

C46015