Product Details

SNP ID
rs144059643
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:58586564 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATTCACTGTGCCTTCTTTGGTGCC[A/G]GAAACTAACAGTGTGCTTGCAGCAT
Phenotype
MIM: 603043 MIM: 602217
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
NSMAF PubMed Links

Gene Details

Gene
NSMAF
Gene Name
neutral sphingomyelinase activation associated factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001144772.1 2554 Silent Mutation TCC,TCT S811S NP_001138244.1
NM_003580.3 2554 Silent Mutation TCC,TCT S780S NP_003571.2
Gene
SDCBP
Gene Name
syndecan binding protein
There are no transcripts associated with this gene.

View Full Product Details