Terminology Service for NFDI4Health

CYP3A7*2 Allele

Go to external page http://purl.obolibrary.org/obo/NCIT_C46020


Human CYP3A7*2 allele is located within 7q21-q22.1 and is approximately 30 kb in length. This allele, a variant form of the human CYP3A7 wild-type allele, encodes cytochrome P450 3A7*2 protein. This allele exhibits a clinically-relevant SNP (c.1226C>G) in exon 11 that results in a T409R coding change. This alteration in protein sequence increases the enzymatic activity of the cytochrome P450 3A7*2 protein. [ ]

Term info

Label

CYP3A7*2 Allele

Synonyms
  • CYP3A7*2
  • CYP3A7*2 Allele
  • CYP3A7, T409R
  • CYP3A7, c.1226C>G
  • Cytochrome P450, Family 3, Subfamily A, Polypeptide7*2 Allele
DesignNote

Ethnicity Association: Asian; Black African; Caucasian; Middle Eastern

Gene Encodes Product

Cytochrome P450 3A7

Legacy Concept Name

CYP3A7_2_Allele

OMIM Number

605340

Preferred Name

CYP3A7*2 Allele

SNP ID

rs2257401

Semantic Type

Gene or Genome

UMLS CUI

C1707239

code

C46020