Product Details

SNP ID

rs2193931

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:151278219 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGCTTCTGCTGCTGTCCGAATATCA[A/G]CCACTTATTTTTCTATTCTTAATAG

Phenotype

MIM: 613109 MIM: 608332

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GM2A PubMed Links

Gene Details

Gene

GM2A

Gene Name

GM2 ganglioside activator

There are no transcripts associated with this gene.

Gene

SLC36A3

Gene Name

solute carrier family 36 member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145017.1		Intron			NP_001138489.1
NM_181774.3		Intron			NP_861439.3
XM_011537627.2		Intron			XP_011535929.1
XM_011537629.2		Intron			XP_011535931.1
XM_011537630.1		Intron			XP_011535932.1
XM_011537631.1		Intron			XP_011535933.1
XM_011537633.1		Intron			XP_011535935.1
XM_011537634.2		Intron			XP_011535936.1

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