Product Details

SNP ID
rs149776127
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:110603317 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTTAACATTTTGGTAATATTCACA[C/T]AGTTTGTGTTAGCCAAGGTACAGTT
Phenotype
MIM: 176262
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KCNA2 PubMed Links

Gene Details

Gene
KCNA2
Gene Name
potassium voltage-gated channel subfamily A member 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001204269.1 2170 Intron NP_001191198.1
NM_004974.3 2170 Missense Mutation TAT,TGT Y489C NP_004965.1
XM_011541396.2 2170 Missense Mutation TAT,TGT Y489C XP_011539698.1
XM_011541397.2 2170 Missense Mutation TAT,TGT Y489C XP_011539699.1
XM_011541398.2 2170 Missense Mutation TAT,TGT Y489C XP_011539700.1
XM_011541399.2 2170 Missense Mutation TAT,TGT Y489C XP_011539701.1
XM_011541400.2 2170 Missense Mutation TAT,TGT Y489C XP_011539702.1
XM_017001213.1 2170 Missense Mutation TAT,TGT Y489C XP_016856702.1

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