Product Details

SNP ID
rs147533994
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:161346145 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACATATTTTTGAGAAAAATTCCCAA[A/G]CCAGGCGAATGTGGATTGGAATAAA
Phenotype
MIM: 610412
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SPTSSB PubMed Links

Gene Details

Gene
SPTSSB
Gene Name
serine palmitoyltransferase small subunit B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001040100.1 953 Missense Mutation GCT,GTT A60V NP_001035189.1
NM_001320679.1 953 Missense Mutation GCT,GTT A60V NP_001307608.1
XM_017005793.1 953 UTR 3 XP_016861282.1
XM_017005794.1 953 UTR 3 XP_016861283.1

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