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See other CYP2D6 GT Assays ›
SNP ID:
rs16947
Gene
CYP2D6 LOC102723722 NDUFA6-AS1
Gene Name
Set Membership:
> DME > Validated > Inventoried
Chromosome Location:
Chr.22: 42127941 - 42127941 on Build GRCh38
Polymorphism:
A/G, Transition substitution
Context Sequence [VIC/FAM]:

GAGAACAGGTCAGCCACCACTATGC[A/G]CAGGTTCTCATCATTGAAGCTGCTC

Assay ID C__27102425_10
Size VIC-FAM | 150 rxns
Availability Inventoried
Catalog # 4362691
Price
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Online offer:
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Assay Details



Species:

 Human

dbSNP Submissions:

 NA

Phenotype:

 MIM: 124030

Literature Links:

 CYP2D6 PubMed Links

Allele Nomenclature:

 CYP2D6*11,g.2850C>T CYP2D6*12,g.2850C>T CYP2D6*14A,g.2850C>T CYP2D6*14B,g.2850C>T CYP2D6*17,g.2850C>T CYP2D6*19,g.2850C>T CYP2D6*20,g.2850C>T CYP2D6*21A,g.2850C>T CYP2D6*21B,g.2850C>T CYP2D6*28,g.2850C>T CYP2D6*29,g.2850C>T CYP2D6*2A,g.2850C>T CYP2D6*2B,g.2850C>T CYP2D6*2C,g.2850C>T CYP2D6*2D,g.2850C>T CYP2D6*2E,g.2850C>T CYP2D6*2F,g.2850C>T CYP2D6*2G,g.2850C>T CYP2D6*2H,g.2850C>T CYP2D6*2J,g.2850C>T CYP2D6*2K,g.2850C>T CYP2D6*2L,g.2850C>T CYP2D6*2M,g.2850C>T CYP2D6*2X13,g.2850C>T CYP2D6*2X2,g.2850C>T CYP2D6*2X3,g.2850C>T CYP2D6*2X4,g.2850C>T CYP2D6*2X5,g.2850C>T CYP2D6*2XN,g.2850C>T CYP2D6*30,g.2850C>T CYP2D6*31,g.2850C>T CYP2D6*32,g.2850C>T CYP2D6*34,g.2850C>T CYP2D6*35,g.2850C>T CYP2D6*35X2,g.2850C>T CYP2D6*40,g.2850C>T CYP2D6*41,g.2850C>T CYP2D6*41A,g.2850C>T CYP2D6*41B,g.2850C>T CYP2D6*42,g.2850C>T CYP2D6*45A,g.2850C>T CYP2D6*45B,g.2850C>T CYP2D6*46,g.2850C>T CYP2D6*4K,g.2850C>T CYP2D6*51,g.2850C>T CYP2D6*55,g.2850C>T CYP2D6*56A,g.2850C>T CYP2D6*58,g.2850C>T CYP2D6*59,g.2850C>T CYP2D6*63,g.2850C>T CYP2D6*8,g.2850C>T

Minor Allele Frequency:
1000Genome Applied Biosystems® HapMap
Global
A (0.36)
(0.64)
Caucasian
A (0.34)
(0.66)
CEPH (CEU) - Not Available
EAS
A (0.14)
(0.86)
Caucasian
A (0.34)
(0.66)
YRI (Yoruba) - Not Available
SAS
A (0.36)
(0.64)
African American
A (0.44)
(0.56)
CHB (Han Chinese) - Not Available
AFR
G (0.45)
(0.55)
African American
A (0.44)
(0.56)
JPT (Japanese) - Not Available
EUR
A (0.34)
(0.66)
Japanese
A (0.12)
(0.88)
AMR
A (0.33)
(0.67)
Japanese
A (0.12)
(0.88)
Chinese
A (0.12)
(0.88)
Chinese
A (0.12)
(0.88)
CYP2D6 - cytochrome P450 family 2 subfamily D member 6
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_000106.5 823 Missense Mutation CGC,TGC R,C 296 NP_000097.3
NM_001025161.2 823 Missense Mutation CGC,TGC R,C 245 NP_001020332.2
XM_011529966.2 823 Intron XP_011528268.1
XM_011529968.2 823 Intron XP_011528270.1
XM_011529970.2 823 Intron XP_011528272.1
XM_011529972.2 823 Intron XP_011528274.1
LOC102723722 - uncharacterized LOC102723722
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
XM_017029174.1 823 Intron XP_016884663.1
NDUFA6-AS1 - NDUFA6 antisense RNA 1 (head to head)
There are no transcripts associated with this gene.

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More Information


Important Information

An improved version of C__27102425_10 is available; we highly recommend using the new C__27102425_50 assay. C__27102425_10 to CYP2D6 g.2850C>T cannot amplify sequences containing the rare CYP2D6*59 rs79292917 SNP minor allele, which can lead to false genotype assignments for *59-containing samples. C__27102425_50 can amplify such samples (see Gaedigk et al. (2015) J Mol Diagn. 17:740-8). C__27102425_10 is discontinued but can still be ordered, if needed. As well, C__72649938_20 to the rs79292917 is available to confirm the presence of the *59 allele.

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.

Set Membership:

 DME Validated Inventoried

Panther Classification:

Gene Ontology Categories:

Function(s) Process(es)


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