C45613Level 6
CYP2C9*2 Allele
**Semantic type:** Gene or Genome
**Definition:** 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.
**Synonyms:** - CYP2C9*2 - CYP2C9, R144C - CYP2C9, c.430C>T - Cytochrome P450, Family 2, Subfamily C, Polypeptide 9*2 Allele
GET
/api/v1/systems/nci_thesaurus/nodes/C45613Hierarchy Explorer
Loading...
Cross-system equivalences0
No cross-system equivalences mapped for this node.