Product Details

SNP ID

rs139369020

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:151259768 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATTGTCCCCAGCCATCCCAGCTCA[A/G]TAGCTTTTCCTGGGATAACTGTGAT

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	260	Missense Mutation	AAT,AGT	N32S	NP_000396.2
NM_001167607.1	260	Missense Mutation	AAT,AGT	N32S	NP_001161079.1

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