Product Details

SNP ID
rs59596499
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:151277569 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGTAAAAGATGACGATCTCCAGGA[G/T]GGCTGGGATGATGAGAGCCAGGGCG
Phenotype
MIM: 613109 MIM: 608332
Polymorphism
G/T, Transversion 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 1486 Missense Mutation NP_001138489.1
NM_181774.3 1486 Missense Mutation NP_861439.3
XM_011537627.2 1486 Missense Mutation XP_011535929.1
XM_011537629.2 1486 Missense Mutation XP_011535931.1
XM_011537630.1 1486 Missense Mutation XP_011535932.1
XM_011537631.1 1486 Missense Mutation XP_011535933.1
XM_011537633.1 1486 Missense Mutation XP_011535935.1
XM_011537634.2 1486 Intron XP_011535936.1

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