Product Details

SNP ID
rs183869279
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:87934756 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTAGCGTGTGGCTTCCACAAGAAA[A/G]TTGTCAAACTGTGCAAATTCAAAGG
Phenotype
MIM: 606890
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
GALC PubMed Links

Gene Details

Gene
GALC
Gene Name
galactosylceramidase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000153.3 2423 Silent Mutation AAC,AAT N678N NP_000144.2
NM_001201401.1 2423 Silent Mutation AAC,AAT N655N NP_001188330.1
NM_001201402.1 2423 Silent Mutation AAC,AAT N652N NP_001188331.1
XM_011536618.2 2423 Silent Mutation AAC,AAT N622N XP_011534920.1

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