Product Details

SNP ID
rs11537609
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:46713956 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCTGATAAAATGATTGGCTTTTC[C/T]GAAACAGCCAAATGTCAGGCCATGA
Phenotype
MIM: 601633
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NSF PubMed Links

Gene Details

Gene
NSF
Gene Name
N-ethylmaleimide sensitive factor, vesicle fusing ATPase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006178.3 1838 Silent Mutation TCC,TCT S577S NP_006169.2

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