Assay Details

Species:	Human
dbSNP Submissions:	NA
Phenotype:	MIM: 124030
Literature Links:	CYP2D6 PubMed Links
Allele Nomenclature:
Minor Allele Frequency:

1000Genome	Applied Biosystems^®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

CYP2D6 - cytochrome P450 family 2 subfamily D member 6
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_000106.5	968	Missense Mutation	CAA,CGA	Q,R 344	NP_000097.3
NM_001025161.2	968	Missense Mutation	CAA,CGA	Q,R 293	NP_001020332.2

LOC102723722 - uncharacterized LOC102723722
There are no transcripts associated with this gene.

NDUFA6-AS1 - NDUFA6 antisense RNA 1 (head to head)
There are no transcripts associated with this gene.

More Information

Additional Information:

The CYP2D6 gene exhibits copy number variation. Individuals may carry deletion alleles or extra copies of CYP2D6. CYP2D6 SNP genotyping assays run on samples lacking CYP2D6 genes will not amplify, homozygous samples having 1 or more gene copies typically cluster together, and heterozygous samples with more than 2 copies may run between the 2 copy heterozygous and homozygous genotype clusters. In addition, some CYP2D6 alleles contain CYP2D7 pseudogene sequences. For accurate CYP2D6 genotype analysis, copy number analysis must be done. For more information, refer to the PGx Experiments User Guide (Pub. # MAN0009612) Chapter 2 Copy Number Variation section.