Product Details

SNP ID

rs13155409

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.5:151277615 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCGCTGCTGCTCACGGAGCCTAC[A/C]AGGGAGATGACCAAGTCCAGGCGGG

Phenotype

MIM: 613109 MIM: 608332

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

GM2A PubMed Links

Additional Information

For this assay, SNP(s) [rs56998614] are located under a probe 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

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	1440	Silent Mutation	CTG,CTT	L438L	NP_001138489.1
NM_181774.3	1440	Silent Mutation	CTG,CTT	L397L	NP_861439.3
XM_011537627.2	1440	Silent Mutation	CTG,CTT	L371L	XP_011535929.1
XM_011537629.2	1440	Missense Mutation	GGT,TGT	G341C	XP_011535931.1
XM_011537630.1	1440	Silent Mutation	CTG,CTT	L282L	XP_011535932.1
XM_011537631.1	1440	Silent Mutation	CTG,CTT	L282L	XP_011535933.1
XM_011537633.1	1440	Silent Mutation	CTG,CTT	L234L	XP_011535935.1
XM_011537634.2	1440	Intron			XP_011535936.1

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