Product Details

SNP ID
rs202017637
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:50307315 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGAGGTTCATCTGGGAAGCTTCCT[G/T]TAGCACCTAGGATAACAAAGAAACA
Phenotype
MIM: 611573
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
SGMS1 PubMed Links

Gene Details

Gene
SGMS1
Gene Name
sphingomyelin synthase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_147156.3 2023 Missense Mutation AAG,CAG K357Q NP_671512.1
XM_005269675.1 2023 Missense Mutation AAG,CAG K357Q XP_005269732.1
XM_011539582.2 2023 Missense Mutation AAG,CAG K357Q XP_011537884.1
XM_011539583.2 2023 Missense Mutation AAG,CAG K357Q XP_011537885.1
XM_011539584.2 2023 Intron XP_011537886.1

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