Product Details

SNP ID
rs78593431
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.5:151257005 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCCTGTGAGAAGATATCATTATGT[A/C]CACATAATAAATGAGGAAATTTTGA
Phenotype
MIM: 613109
Polymorphism
A/C, Transversion 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 Intron NP_000396.2
NM_001167607.1 Intron NP_001161079.1

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