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See other CYP2D6 GT Assays ›
SNP ID:
rs35742686
Gene
CYP2D6 LOC102723722 NDUFA6-AS1
Gene Name
Set Membership:
> DME > Validated > Inventoried
Chromosome Location:
Chr.22: 42128242 - 42128242 on Build GRCh38
Polymorphism:
T/-, Insertion/deletion
Context Sequence [VIC/FAM]:

GGCTGGGCTGGGTCCCAGGTCATCC[T/-]GTGCTCAGTTAGCAGCTCATCCAGC

Assay ID C__32407232_L0
Size 150 rxns
Availability Inventoried
Catalog # 4362691
Price
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Assay Details



Species:

 Human

dbSNP Submissions:

 NA

Phenotype:

 MIM: 124030

Literature Links:

 CYP2D6 PubMed Links

Allele Nomenclature:

 CYP2D6*3A,g.2549delA CYP2D6*3B,g.2549delA

Minor Allele Frequency:
1000Genome Applied Biosystems® HapMap
Global
- (0.01)
(0.99)
Caucasian
- (0.00)
(1.00)
CEPH (CEU) - Not Available
EAS
- (0.00)
(1.00)
Caucasian
- (0.00)
(1.00)
YRI (Yoruba) - Not Available
SAS
- (0.00)
(1.00)
African American
- (0.01)
(0.99)
CHB (Han Chinese) - Not Available
AFR
- (0.00)
(1.00)
African American
- (0.01)
(0.99)
JPT (Japanese) - Not Available
EUR
- (0.02)
(0.98)
Japanese
- (0.00)
(1.00)
AMR
- (0.01)
(0.99)
Japanese
- (0.00)
(1.00)
Chinese
- (0.00)
(1.00)
Chinese
- (0.00)
(1.00)
CYP2D6 - cytochrome P450 family 2 subfamily D member 6
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_000106.5 712 Frame Shift Delete AGG,GGA R,G 259 NP_000097.3
NM_001025161.2 712 Frame Shift Delete AGG,GGA R,G 208 NP_001020332.2
XM_011529966.2 712 Intron XP_011528268.1
XM_011529968.2 712 Intron XP_011528270.1
XM_011529970.2 712 Intron XP_011528272.1
XM_011529972.2 712 Intron XP_011528274.1
LOC102723722 - uncharacterized LOC102723722
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
XM_017029174.1 712 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

C__32407232_L0 to CYP2D6*3,g.2549delA is an improved version of the C__32407232_50 assay. Two SNPs, rs28371719 and rs17002852, underlie C__32407232_50 primer binding sites. In the presence of either of these SNPs, amplification of chromosomes that carry the rs35742686 wild type allele is reduced. The underlying SNPs are not linked to the *3 variant and do not interfere with *3 detection, however, C__32407232_50 will not amplify samples that are homozygous for the rs28371719 or rs17002852 alternate alleles, and samples that are heterozygous for these SNPs and the *3 allele will run as *3/*3. The C__32407232_L0 assay does not overlie rs28371719 or rs17002852. C__32407232_50 has been discontinued but can still be ordered, if needed.

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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