Product Details

SNP ID
rs188570294
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:21765929 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGATGGAAGGTTTCTCATCCAGCT[C/G]TCGGGCACTGCACCGTGGAGCAGCT
Phenotype
MIM: 600935
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
KCNJ8 PubMed Links

Gene Details

Gene
KCNJ8
Gene Name
potassium voltage-gated channel subfamily J member 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004982.3 1384 Missense Mutation CAG,GAG Q357E NP_004973.1
XM_005253358.4 1384 Missense Mutation CAG,GAG Q357E XP_005253415.1
XM_017019283.1 1384 Missense Mutation CAG,GAG Q357E XP_016874772.1
XM_017019284.1 1384 Missense Mutation CAG,GAG Q357E XP_016874773.1

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