CYP2D6*44 Allele
Human CYP2D6*44 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*44 protein. The CYP2D6*44 allele exhibits a clinically-relevant SNP (g.2950G>C) in the intron 6 donor splice junction that results in a splicing defect. This alteration abolishes the enzymatic activity of the cytochrome P450 2D6*44 protein. [ ]
Term info
CYP2D6*44 Allele
- CYP2D6*44
- CYP2D6*44 Allele
- CYP2D6, g.2950G>C
- Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*44 Allele
NCIT_C116977, NCIT_C142800, NCIT_C142799
CTRP
Ethnicity Association: Asian
CYP2D6*44 Allele
NM_000106
CYP2D6_44_Allele
124030
CYP2D6*44 Allele
15618746
Gene or Genome
C1707225
C46060
Term relations
- CYP2D6 Gene
- 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 Transversion Mutation
- Allele_Has_Abnormality some Guanosine to Cytosine Transversion Abnormality
- Allele_Has_Activity some Absence of Biochemical Activity
- Allele_Has_Abnormality some Splice-Site Mutation