Product Details

SNP ID

rs4986891

Assay Type

DME

NCBI dbSNP Submissions

NA

Location

Chr.19:40848724 on Build GRCh38

Set Membership

DME Validated Inventoried

Context Sequence [VIC/FAM]

CCGCAGGGTGGCGATGGAGAAGCGC[C/T]GGAGCTGCTTGGCGCGCTCCCCGTT

Phenotype

MIM: 122720

Polymorphism

C/T, Transition substitution

Allele Nomenclature

CYP2A6*6,c.383G>A CYP2A6*6,g.1703G>A CYP2A6,g.1703G>T

Literature Links

CYP2A6 PubMed Links

Additional Information

The CYP2A6 gene exhibits copy number variation. Individuals may carry deletion alleles or extra copies of CYP2A6. CYP2A6 SNP genotyping assays run on samples lacking CYP2A6 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 relatively rare CYP2A6 alleles contain CYP2A7 pseudogene sequences. For accurate CYP2A6 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

CYP2A6

Gene Name

cytochrome P450 family 2 subfamily A member 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000762.5		Intron			NP_000753.3

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