Product Details

SNP ID

rs138530641

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:58586523 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGAATCTGGTGCATTAAGGTGGCC[A/G]TTGTGAGGTCCCAAATATTCACTGT

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	2595	Missense Mutation	ACG,ATG	T825M	NP_001138244.1
NM_003580.3	2595	Missense Mutation	ACG,ATG	T794M	NP_003571.2

Gene

SDCBP

Gene Name

syndecan binding protein

There are no transcripts associated with this gene.

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