Product Details

SNP ID

rs1048719

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:151253271 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GATCGCCCTGGGCTTGCTTCTCGCG[A/G]CCCCTGCGCAAGCCCACCTGAAAAA

Phenotype

MIM: 613109

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GM2A PubMed Links

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	220	Missense Mutation	ACC,GCC	T19A	NP_000396.2
NM_001167607.1	220	Missense Mutation	ACC,GCC	T19A	NP_001161079.1

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