Terminology Service for NFDI4Health
JSON

CYP2C8*7 Allele

Go to external page http://purl.obolibrary.org/obo/NCIT_C46035

Human CYP2C8*7 allele is located in the vicinity of 10q23.33 and is approximately 33 kb in length. This allele, a variant form of the CYP2C8 wild-type allele, encodes cytochrome P450 2C8*7 protein. The CYP2C8*7 allele exhibits a clinically-relevant SNP (c.556C>T) in exon 4 that results in a R186X coding change. This alteration yields a truncated cytochrome P450 2C8*7 protein that is enzymatically inactive. [ ]

Term info

Label

CYP2C8*7 Allele

Synonyms
  • CYP2C8*7
  • CYP2C8*7 Allele
  • CYP2C8, R186X
  • CYP2C8, c.556C>T
  • Cytochrome P450, Family 2, Subfamily C, Polypeptide 8*7 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

Ethnicity Association: Asian

Display Name

CYP2C8*7 Allele

Gene Encodes Product

Cytochrome P450 2C8

Legacy Concept Name

CYP2C8_7_Allele

OMIM Number

601129

Preferred Name

CYP2C8*7 Allele

Semantic Type

Gene or Genome

UMLS CUI

C1707194

code

C46035