Product Details

SNP ID

rs72559710

Assay Type

DME

NCBI dbSNP Submissions

NA

Location

Chr.10:133528530 on Build GRCh38

Set Membership

DME Validated Inventoried

Context Sequence [VIC/FAM]

TTCACGCTGTACGTGGGCTCGCAGC[G/A]CATGGTGGTGATGCACGGCTACAAG

Phenotype

MIM: 124040

Polymorphism

G/A, Transition substitution

Allele Nomenclature

CYP2E1*2,g.1132G>A

Literature Links

CYP2E1 PubMed Links

Additional Information

The CYP2E1 gene exhibits copy number variation. Individuals may carry extra copies of CYP2E1. CYP2E1 SNP genotyping assays run on samples having 2 or more gene copies that are homozygous for the SNP allele will cluster together, and samples having more than 2 gene copies that are heterozygous may run between the 2 copy heterozygous and homozygous clusters. For accurate CYP2E1 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

CYP2E1

Gene Name

cytochrome P450 family 2 subfamily E member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000773.3	260	Missense Mutation	CAC,CGC	H76R	NP_000764.1

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