Product Details

SNP ID
rs190554965
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.8:58584123 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAAGGCACTTAATACTGCAATTTCC[A/G]GAATATAATTTGTCTGTCTTCCCCT
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 2951 Missense Mutation CGG,TGG R944W NP_001138244.1
NM_003580.3 2951 Missense Mutation CGG,TGG R913W NP_003571.2
Gene
SDCBP
Gene Name
syndecan binding protein
There are no transcripts associated with this gene.

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