Product Details

SNP ID
rs421262
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.14:87934869 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GACTTGTCATTCAGCATGCCAGAGG[C/T]GAAATGACCCTAGAGTAGAAAGAAA
Phenotype
MIM: 606890
Polymorphism
C/T, 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 2310 Missense Mutation NP_000144.2
NM_001201401.1 2310 Missense Mutation NP_001188330.1
NM_001201402.1 2310 Missense Mutation NP_001188331.1
XM_011536618.2 2310 Missense Mutation XP_011534920.1

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