Product Details

SNP ID
rs189059720
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.8:58584144 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCCAGAATATAATTTGTCTGTCTT[A/C]CCCTCCTGTGATGATACTGCTACAC
Phenotype
MIM: 603043 MIM: 602217
Polymorphism
A/C, Transversion 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 2930 Nonsense Mutation GAA,TAA E937* NP_001138244.1
NM_003580.3 2930 Nonsense Mutation GAA,TAA E906* NP_003571.2
Gene
SDCBP
Gene Name
syndecan binding protein
There are no transcripts associated with this gene.

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