Product Details

SNP ID
rs145194613
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:21766150 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCAAGTCTTGGTTGGCCAGGTCA[A/G]TTGCTGAGATGTCATACAGGGGACT
Phenotype
MIM: 600935
Polymorphism
A/G, Transition 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 1163 Missense Mutation ACT,ATT T283I NP_004973.1
XM_005253358.4 1163 Missense Mutation ACT,ATT T283I XP_005253415.1
XM_017019283.1 1163 Missense Mutation ACT,ATT T283I XP_016874772.1
XM_017019284.1 1163 Missense Mutation ACT,ATT T283I XP_016874773.1

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