rs9637454
This is a intron variant variant in the KCNMB2 gene.
▶Research that mentions this SNP (1)
▶Distinct clinicopathologic clusters of persons with TDP-43 proteinopathyAssociationN=495Yuriko Katsumata et al.(2020)· Acta Neuropathologica
Clustering analysis of 495 autopsied NACC subjects with TDP-43 proteinopathy identified four distinct neuropathologic and clinicopathologic groups differing by age at death and Alzheimer's disease neuropathologic changes severity. Genetic analysis of 114 subjects examined five TDP-43 disease risk SNPs, finding a suggestive trend for C9orf72 rs3849942 T allele association with earlier disease onset cluster (p=0.095).
About KCNMB2
MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which decreases the activation time of MaxiK alpha subunit currents. Alternative splicing results in multiple transcript variants of this gene. Additional variants are discussed in the literature, but their full length nature has not been described. [provided by RefSeq, Jul 2013]
View all KCNMB2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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