Terminology Service for NFDI4Health

CYP3A5*8 Allele

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Human CYP3A5*8 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*8 protein. The CYP3A5*8 allele exhibits a clinically-relevant SNP (g.3699C>T) in exon 2 that results in a R28C coding change. This alteration in protein sequence decreases the enzymatic activity of the cytochrome P450 3A5*8 protein. [ ]

Term info

Label

CYP3A5*8 Allele

Synonyms
  • CYP3A5*8
  • CYP3A5*8 Allele
  • CYP3A5, R28C
  • CYP3A5, g.3699C>T
  • Cytochrome P450, Family 3, Subfamily A, Polypeptide 5*8 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

Ethnicity Association: African (samples from African Americans and Black Africans were combined)

Display Name

CYP3A5*8 Allele

Gene Encodes Product

Cytochrome P450 3A5

Legacy Concept Name

CYP3A5_8_Allele

OMIM Number

605325

Preferred Name

CYP3A5*8 Allele

Semantic Type

Gene or Genome

UMLS CUI

C1707237

code

C46023