CYP3A5*6 Allele
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
CYP3A5*6 Allele
- CYP3A5*6
- CYP3A5*6 Allele
- CYP3A5, g.14690G>A
- Cytochrome P450, Family 3, Subfamily A, Polypeptide 5*6 Allele
NCIT_C116977, NCIT_C142800, NCIT_C142799
CTRP
Ethnicity Association: African American
CYP3A5*6 Allele
NM_000777
CYP3A5_6_Allele
605325
CYP3A5*6 Allele
11279519
Gene or Genome
C1707236
C46022
Term relations
- CYP3A5 Gene
- Allele_Has_Abnormality some Frameshift Mutation
- Allele_Plays_Altered_Role_In_Process some Drug Metabolism
- Allele_Plays_Altered_Role_In_Process some Xenobiotic Metabolism
- Allele_Has_Abnormality some Protein Truncation Abnormality
- Allele_In_Chromosomal_Location some 7q22.1
- Allele_Has_Abnormality some Guanosine to Adenosine Transition Abnormality
- Allele_Has_Abnormality some Deletion Mutation
- Allele_Has_Abnormality some Transition Mutation
- Allele_Has_Activity some Absence of Biochemical Activity