Terminology Service for NFDI4Health

CYP2C9*18 Allele

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Human CYP2C9*18 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*18 protein. The CYP2C9*18 allele exhibits a clinically-relevant SNP (c.1190A>C) in exon 8 that results in a D397A coding change. This alteration in protein sequence decreases the in vivo enzymatic activity of the cytochrome P450 2C9*18 protein. [ ]

Term info

Label

CYP2C9*18 Allele

Synonyms
  • CYP2C9*18
  • CYP2C9*18 Allele
  • CYP2C9, D397A
  • CYP2C9, c.1190A>C
  • Cytochrome P450, Family 2, Subfamily C, Polypeptide 9*18 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

Ethnicity Association: Asian

Display Name

CYP2C9*18 Allele

Gene Encodes Product

Cytochrome P450 2C9

Legacy Concept Name

CYP2C9_18_Allele

OMIM Number

601130

Preferred Name

CYP2C9*18 Allele

Semantic Type

Gene or Genome

UMLS CUI

C1707200

code

C46019