CYP2D6*4 Allele

**Semantic type:** Gene or Genome

**Definition:** Human CYP2D6*4 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*4 protein. The CYP2D6*4 allele exhibits a clinically-relevant SNP (g.1846G>A) at the consensus sequence of the splice site of intron 3 that results in a premature stop codon. This alteration yields a truncated cytochrome P450 2D6*4 protein that is enzymatically inactive.

**Synonyms:** - CYP2D6(B) - CYP2D6*4 - CYP2D6, K29-1 - CYP2D6, g.1846G>A - CYP2D6B - Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*4 Allele