Product Details

SNP ID

rs147511920

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.5:151259811 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTGTGATGAAGGGAAGGACCCTGC[A/G]GTGATCAGAAGCCTGACTCTGGAGC

Phenotype

MIM: 613109

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

GM2A PubMed Links

Additional Information

For this assay, SNP(s) [rs153477] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

GM2A

Gene Name

GM2 ganglioside activator

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000405.4	303	Silent Mutation	GCA,GCG	A46A	NP_000396.2
NM_001167607.1	303	Silent Mutation	GCA,GCG	A46A	NP_001161079.1

View Full Product Details