Product Details

SNP ID
rs200450023
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:156120831 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTGGAGATGAACTGGTACCTAAAG[C/G]TCTGCGACCTGTCCAGCGAGCACAC
Phenotype
MIM: 601141
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
KCNAB1 PubMed Links

Gene Details

Gene
KCNAB1
Gene Name
potassium voltage-gated channel subfamily A member regulatory beta subunit 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001308217.1 284 Missense Mutation CTC,GTC L74V NP_001295146.1
NM_001308222.1 284 Intron NP_001295151.1
NM_003471.3 284 Intron NP_003462.2
NM_172159.3 284 Intron NP_751891.1
NM_172160.2 284 Missense Mutation CTC,GTC L74V NP_751892.1
XM_011513115.2 284 Intron XP_011511417.1
XM_011513116.2 284 Intron XP_011511418.1
XM_011513117.2 284 Intron XP_011511419.1
XM_017007171.1 284 Intron XP_016862660.1
XM_017007172.1 284 Intron XP_016862661.1
XM_017007173.1 284 Intron XP_016862662.1
XM_017007174.1 284 Missense Mutation CTC,GTC L74V XP_016862663.1

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