CYP2D6*4 Allele

Source:http://linkedlifedata.com/resource/umls/id/C1707226

NCI: 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.

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