Product Details

SNP ID
rs748723735
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:92032485 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGCCTAGAGCAGGACGGCCTGGG[C/A]TACCTCCTTGATGGTGGACGCAGCT
Phenotype
MIM: 605712
Polymorphism
C/A, Transversion substitution
Allele Nomenclature
Literature Links
SPTLC1 PubMed Links

Gene Details

Gene
SPTLC1
Gene Name
serine palmitoyltransferase long chain base subunit 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001281303.1 1506 Missense Mutation AGC,ATC S457I NP_001268232.1
NM_006415.3 1506 Missense Mutation GCC,TCC A468S NP_006406.1
NM_178324.2 1506 Intron NP_847894.1
XM_011518138.2 1506 Intron XP_011516440.1
XM_011518139.2 1506 Missense Mutation GCC,TCC A313S XP_011516441.1
XM_017014200.1 1506 Missense Mutation GCC,TCC A346S XP_016869689.1
XM_017014201.1 1506 Missense Mutation GCC,TCC A346S XP_016869690.1
XM_017014202.1 1506 Missense Mutation GCC,TCC A341S XP_016869691.1

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