Terminology Service for NFDI4Health

CYP1A2*11 Allele

Go to external page http://purl.obolibrary.org/obo/NCIT_C46039


Human CYP1A2*11 allele is located within 15q24 and is approximately 8 kb in length. This allele, a variant form of the CYP1A2 wild-type allele, encodes cytochrome P450 1A2*11 protein. The CYP1A2*11 allele exhibits a clinically-relevant SNP (g.558C>A) in exon 2 that results in a F186L coding change. This alteration in protein sequence severely decreases the enzymatic activity of the cytochrome P450 1A2*11 protein. [ ]

Term info

Label

CYP1A2*11 Allele

Synonyms
  • CYP1A2*11
  • CYP1A2*11 Allele
  • CYP1A2, F186L
  • CYP1A2, g.558C>A
  • Cytochrome P450, Family 1, Subfamily A, Polypeptide 2*11 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

Ethnicity Association: Asian

Display Name

CYP1A2*11 Allele

Gene Encodes Product

Cytochrome P450 1A2

Legacy Concept Name

CYP1A2_11_Allele

OMIM Number

124060

Preferred Name

CYP1A2*11 Allele

Semantic Type

Gene or Genome

UMLS CUI

C1707173

code

C46039