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CYP3A5*3 Allele

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Human CYP3A5*3 allele is located in the vicinity of 7q21.1 and is approximately 32 kb in length. This allele, a variant form of the human CYP3A5 wild-type allele, encodes cytochrome P450 3A5*3 protein. The CYP3A5*3 allele exhibits a clinically-relevant SNP (g.6986A>G) in intron 3 that results in a splicing defect and premature stop at 102 amino acids. This alteration severely decreases the enzymatic activity of the cytochrome P450 3A5*3 protein. [ ]

Term info

Label

CYP3A5*3 Allele

Synonyms
  • CYP3A5*3
  • CYP3A5*3 Allele
  • CYP3A5, g.6986A>G
  • Cytochrome P450, Family 3, Subfamily A, Polypeptide 5*3 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

Ethnicity Association: African*; Asian; Caucasian (*samples from African Americans and Black Africans were combined)

Display Name

CYP3A5*3 Allele

Gene Encodes Product

Cytochrome P450 3A5

Legacy Concept Name

CYP3A5_3_Allele

OMIM Number

605325

Preferred Name

CYP3A5*3 Allele

PubMedID Primary Reference

14961555, 11279519, 12893984

SNP ID

rs776746

Semantic Type

Gene or Genome

UMLS CUI

C1706122

code

C46021