CYP2D6*3 Allele
Human CYP2D6*3 allele is located in the vicinity of 22q13.1 and is approximately 4 kb in length. This allele, a variant form of the CYP2D6 wild-type allele, encodes cytochrome P450 2D6*3 protein. The CYP2D6*3 allele exhibits a single nucleotide deletion (g.2549A>del) that results in a frameshift during protein coding. This alteration abolishes the enzymatic activity of the cytochrome P450 2D6*3 protein. [ ]
Term info
CYP2D6*3 Allele
- CYP2D6*3
- CYP2D6*3 Allele
- CYP2D6, g.2549delA
- CYP2D6A
- Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*3 Allele
NCIT_C116977, NCIT_C142800, NCIT_C142799
CTRP
Ethnicity Association: Asian; Caucasian
CYP2D6*3 Allele
NM_000106
CYP2D6_3_Allele
124030
CYP2D6*3 Allele
2211621
Gene or Genome
C1707222
C46041
Term relations
- CYP2D6 Gene
- Allele_Has_Abnormality some Frameshift Mutation
- Allele_Plays_Altered_Role_In_Process some Drug Metabolism
- Allele_In_Chromosomal_Location some 22q13.1
- Allele_Plays_Altered_Role_In_Process some Xenobiotic Metabolism
- Allele_Has_Abnormality some Adenosine to Guanosine Transition Abnormality
- Allele_Has_Abnormality some Deletion Mutation
- Allele_Has_Activity some Absence of Biochemical Activity