CYP2D6*44 Allele

**Semantic type:** Gene or Genome

**Definition:** 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.

**Synonyms:** - CYP2D6*44 - CYP2D6, g.2950G>C - Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*44 Allele