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CYP2C9*12 Allele

Go to external page http://purl.obolibrary.org/obo/NCIT_C46017

Human CYP2C9*12 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*12 protein. The CYP2C9*12 allele exhibits a clinically-relevant SNP (c.1465C>T) in exon 9 that results in a P489S coding change. This alteration in protein sequence decreases the enzymatic activity of the cytochrome P450 2C9*12 protein. [ ]

Term info

Label

CYP2C9*12 Allele

Synonyms
  • CYP2C9*12
  • CYP2C9*12 Allele
  • CYP2C9, P489S
  • CYP2C9, c.1465C>T
  • Cytochrome P450, Family 2, Subfamily C, Polypeptide 9*12 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

Ethnicity Association: None Established

Display Name

CYP2C9*12 Allele

Gene Encodes Product

Cytochrome P450 2C9

Legacy Concept Name

CYP2C9_12_Allele

OMIM Number

601130

Preferred Name

CYP2C9*12 Allele

SNP ID

rs9332239

Semantic Type

Gene or Genome

UMLS CUI

C1707198

code

C46017