Terminology Service for NFDI4Health

CYP1A2*7 Allele

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Human CYP1A2*7 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*7 protein. The CYP1A2*7 allele exhibits a clinically-relevant SNP (g.3534G>A) in the 5' splice-site consensus sequence of intron 6 that is predicted to result in abnormal mRNA splicing. This alteration decreases the in vivo enzymatic activity of the cytochrome P450 1A2*7 protein. [ ]

Term info

Label

CYP1A2*7 Allele

Synonyms
  • CYP1A2*7
  • CYP1A2*7 Allele
  • CYP1A2, g.3534G>A
  • Cytochrome P450, Family 1, Subfamily A, Polypeptide 2*7 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

Ethnicity Association: Caucasian

Display Name

CYP1A2*7 Allele

Gene Encodes Product

Cytochrome P450 1A2

Legacy Concept Name

CYP1A2_7_Allele

OMIM Number

124060

Preferred Name

CYP1A2*7 Allele

Semantic Type

Gene or Genome

UMLS CUI

C1707175

code

C46038