Product Details

SNP ID

rs143867953

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:151253249 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTGATGCAGGCTCCCCTCCTGAT[C/T]GCCCTGGGCTTGCTTCTCGCGGCCC

Phenotype

MIM: 613109

Polymorphism

C/T, Transition 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	198	Silent Mutation	ATC,ATT	I11I	NP_000396.2
NM_001167607.1	198	Silent Mutation	ATC,ATT	I11I	NP_001161079.1

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