Product Details

SNP ID
rs202018171
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:75042341 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTAAGAGATCTGGCCTCGGCTTGC[A/G]TGTAACCAGTAATGACAACCTCTTT
Phenotype
MIM: 176256
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
KCNC2 PubMed Links

Gene Details

Gene
KCNC2
Gene Name
potassium voltage-gated channel subfamily C member 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001260497.1 2210 UTR 3 NP_001247426.1
NM_001260498.1 2210 Intron NP_001247427.1
NM_001260499.1 2210 UTR 3 NP_001247428.1
NM_139136.3 2210 Missense Mutation ACG,ATG T605M NP_631874.1
NM_139137.3 2210 UTR 3 NP_631875.1
NM_153748.2 2210 Missense Mutation ACG,ATG T550M NP_715624.1
XM_005268855.3 2210 Intron XP_005268912.1
XM_006719382.3 2210 Missense Mutation ACG,ATG T605M XP_006719445.1
XM_006719383.3 2210 UTR 3 XP_006719446.1
XM_006719384.3 2210 UTR 3 XP_006719447.1
XM_006719385.3 2210 UTR 3 XP_006719448.1
XM_006719390.3 2210 Intron XP_006719453.1
XM_017019282.1 2210 Intron XP_016874771.1

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