Product Details

SNP ID
rs112329671
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:13009376 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCACAAAGAATGGAATAGTGAAG[A/G]AAGCCCAGGTAAGAGGCACTCTCCC
Phenotype
MIM: 611120
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SPTLC3 PubMed Links

Gene Details

Gene
SPTLC3
Gene Name
serine palmitoyltransferase long chain base subunit 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018327.2 166 Missense Mutation AAA,GAA K37E NP_060797.2
XM_011529279.1 166 Missense Mutation AAA,GAA K37E XP_011527581.1
XM_011529280.2 166 Intron XP_011527582.1
XM_017027922.1 166 Missense Mutation AAA,GAA K37E XP_016883411.1

View Full Product Details