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CYP2C9*2 Allele

Go to external page http://purl.obolibrary.org/obo/NCIT_C45613

Human CYP2C9*2 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*2 protein. The CYP2C9*2 allele exhibits a clinically-relevant SNP (c.430C>T) in exon 3 that results in a R144C coding change. This alteration in protein sequence decreases the enzymatic activity of the cytochrome P450 2C9*2 protein. [ ]

Term info

Label

CYP2C9*2 Allele

Synonyms
  • CYP2C9*2
  • CYP2C9*2 Allele
  • CYP2C9, R144C
  • CYP2C9, c.430C>T
  • Cytochrome P450, Family 2, Subfamily C, Polypeptide 9*2 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

Ethnicity Association: African American; Black African; Caucasian

Display Name

CYP2C9*2 Allele

Gene Encodes Product

Cytochrome P450 2C9

Legacy Concept Name

CYP2C9_2_Allele

OMIM Number

601130

Preferred Name

CYP2C9*2 Allele

PubMedID Primary Reference

15100169, 15608560

SNP ID

rs1799853

Semantic Type

Gene or Genome

UMLS CUI

C1707202

code

C45613