Product Details

SNP ID

rs1135840

Assay Type

DME

NCBI dbSNP Submissions

NA

Location

Chr.22:42126611 on Build GRCh38

Set Membership

DME Validated Inventoried

Context Sequence [VIC/FAM]

AGCACAAAGCTCATAGGGGGATGGG[C/G]TCACCAGGAAAGCAAAGACACCATG

Phenotype

MIM: 124030

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

CYP2D6*10A,g.4180G>C CYP2D6*10B,g.4180G>C CYP2D6*10D,g.4180G>C CYP2D6*11,g.4180G>C CYP2D6*12,g.4180G>C CYP2D6*14A,g.4180G>C CYP2D6*14B,g.4180G>C CYP2D6*17,g.4180G>C CYP2D6*19,g.4180G>C CYP2D6*20,g.4180G>C CYP2D6*21A,g.4180G>C CYP2D6*21B,g.4180G>C CYP2D6*28,g.4180G>C CYP2D6*29,g.4180G>C CYP2D6*2A,g.4180G>C CYP2D6*2B,g.4180G>C CYP2D6*2C,g.4180G>C CYP2D6*2D,g.4180G>C CYP2D6*2E,g.4180G>C CYP2D6*2F,g.4180G>C CYP2D6*2G,g.4180G>C CYP2D6*2H,g.4180G>C CYP2D6*2J,g.4180G>C CYP2D6*2K,g.4180G>C CYP2D6*2L,g.4180G>C CYP2D6*2M,g.4180G>C CYP2D6*2X13,g.4180G>C CYP2D6*2X2,g.4180G>C CYP2D6*2X3,g.4180G>C CYP2D6*2X4,g.4180G>C CYP2D6*2X5,g.4180G>C CYP2D6*2XN,g.4180G>C CYP2D6*30,g.4180G>C CYP2D6*31,g.4180G>C CYP2D6*32,g.4180G>C CYP2D6*35,g.4180G>C CYP2D6*35X2,g.4180G>C CYP2D6*36 Dupl. or tandem,g.4180G>C CYP2D6*36 Single,g.4180G>C CYP2D6*36,g.4180G>C CYP2D6*37,g.4180G>C CYP2D6*39,g.4180G>C CYP2D6*40,g.4180G>C CYP2D6*41,g.4180G>C CYP2D6*41A,g.4180G>C CYP2D6*41B,g.4180G>C CYP2D6*42,g.4180G>C CYP2D6*45A,g.4180G>C CYP2D6*45B,g.4180G>C CYP2D6*46,g.4180G>C CYP2D6*47,g.4180G>C CYP2D6*49,g.4180G>C CYP2D6*4A,g.4180G>C CYP2D6*4B,g.4180G>C CYP2D6*4C,g.4180G>C CYP2D6*4D,g.4180G>C CYP2D6*4E,g.4180G>C CYP2D6*4F,g.4180G>C CYP2D6*4G,g.4180G>C CYP2D6*4H,g.4180G>C CYP2D6*4K,g.4180G>C CYP2D6*4L,g.4180G>C CYP2D6*4N,g.4180G>C CYP2D6*51,g.4180G>C CYP2D6*52,g.4180G>C CYP2D6*54,g.4180G>C CYP2D6*55,g.4180G>C CYP2D6*56A,g.4180G>C CYP2D6*56B,g.4180G>C CYP2D6*57,g.4180G>C CYP2D6*58,g.4180G>C CYP2D6*59,g.4180G>C CYP2D6*6C,g.4180G>C CYP2D6*8,g.4180G>C

Literature Links

CYP2D6 PubMed Links

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.

Gene Details

Gene

CYP2D6

Gene Name

cytochrome P450 family 2 subfamily D member 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000106.5	1394	Missense Mutation	ACC,AGC	T486S	NP_000097.3
NM_001025161.2	1394	Missense Mutation	ACC,AGC	T435S	NP_001020332.2
XM_011529966.2	1394	Intron			XP_011528268.1
XM_011529968.2	1394	Intron			XP_011528270.1
XM_011529970.2	1394	Intron			XP_011528272.1
XM_011529972.2	1394	Intron			XP_011528274.1

Gene

LOC102723722

Gene Name

uncharacterized LOC102723722

There are no transcripts associated with this gene.

Gene

NDUFA6-AS1

Gene Name

NDUFA6 antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

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