Product Details

SNP ID
rs142180542
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:45094932 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGCTCTCTAGATCTGCAGACTGTC[C/T]CTCCTGAGAGGTTTCTCGGGATGTC
Phenotype
MIM: 602905
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KCNS1 PubMed Links

Gene Details

Gene
KCNS1
Gene Name
potassium voltage-gated channel modifier subfamily S member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001322799.1 1916 Missense Mutation AGA,GGA R507G NP_001309728.1
NM_002251.4 1916 Missense Mutation AGA,GGA R507G NP_002242.2
XM_017027846.1 1916 Missense Mutation AGA,GGA R508G XP_016883335.1

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