Terminology Service for NFDI4Health

CYP3A5*6 Allele

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Human CYP3A5*6 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*6 protein. The CYP3A5*6 allele exhibits a clinically-relevant SNP (g.14690G>A), resulting in deletion of exon 7 from the splice variant, a frame shift and premature stop at 184 amino acids. Truncation of the cytochrome P450 3A5*6 protein causes complete loss of enzymatic activity. [ ]

Term info

Label

CYP3A5*6 Allele

Synonyms
  • CYP3A5*6
  • CYP3A5*6 Allele
  • CYP3A5, g.14690G>A
  • Cytochrome P450, Family 3, Subfamily A, Polypeptide 5*6 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

Ethnicity Association: African American

Display Name

CYP3A5*6 Allele

Legacy Concept Name

CYP3A5_6_Allele

OMIM Number

605325

Preferred Name

CYP3A5*6 Allele

Semantic Type

Gene or Genome

UMLS CUI

C1707236

code

C46022