Product Details

SNP ID
rs147915045
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:151276529 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATAGACATTTAGAGTATTTCCAAC[A/T]TCTTTGCTTTTATAAGTAAAGTTAC
Phenotype
MIM: 613109 MIM: 608332
Polymorphism
A/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 2696 UTR 3 NP_001138489.1
NM_181774.3 2696 UTR 3 NP_861439.3
XM_011537627.2 2696 Intron XP_011535929.1
XM_011537629.2 2696 Intron XP_011535931.1
XM_011537630.1 2696 Intron XP_011535932.1
XM_011537631.1 2696 Intron XP_011535933.1
XM_011537633.1 2696 Intron XP_011535935.1
XM_011537634.2 2696 Intron XP_011535936.1

View Full Product Details