Genename Variants
SCN4A(NM_000334,sodium channel, voltage-gated, type IV, alpha subunit,1836aa) g.17:62018451C>T,c.5191G>A,p.A1731T
SCN4A(NM_000334,sodium channel, voltage-gated, type IV, alpha subunit,1836aa) g.17:62018174G>C,c.5468C>G,p.P1823R
SCN3B(NM_018400,sodium channel, voltage-gated, type III, beta subunit,215aa) g.11:123513271C>T,c.328G>A,p.V110I
SCN3B(NM_018400,sodium channel, voltage-gated, type III, beta subunit,215aa) g.11:123508895C>T,c.583G>A,p.A195T
SCN3A(NM_006922,sodium channel, voltage-gated, type III, alpha subunit,2000aa) g.2:166032829C>T,c.76G>A,p.E26K
SCN3A(NM_006922,sodium channel, voltage-gated, type III, alpha subunit,2000aa) g.2:166032776_166032778del,c.127_129del,p.43del
SCN3A(NM_006922,sodium channel, voltage-gated, type III, alpha subunit,2000aa) g.2:166019077A>G,c.956T>C,p.I319T
SCN3A(NM_006922,sodium channel, voltage-gated, type III, alpha subunit,2000aa) g.2:165984284C>T,c.3250G>A,p.V1084I
SCN3A(NM_006922,sodium channel, voltage-gated, type III, alpha subunit,2000aa) g.2:165947256C>T,c.5407G>A,p.D1803N
SCN3A(NM_006922,sodium channel, voltage-gated, type III, alpha subunit,2000aa) g.2:165947079C>A,c.5584G>T,p.G1862C
SCN3A(NM_006922,sodium channel, voltage-gated, type III, alpha subunit,2000aa) g.2:165946937C>T,c.5726G>A,p.R1909H
SCN3A(NM_006922,sodium channel, voltage-gated, type III, alpha subunit,2000aa) g.2:165946820T>G,c.5843A>C,p.K1948T
SCN2B(NM_004588,sodium channel, voltage-gated, type II, beta subunit,215aa) g.11:118037754C>T,c.496G>A,p.V166I
SCN2A(NM_021007,sodium channel, voltage-gated, type II, alpha subunit,2005aa) g.2:166246069G>A,c.5753G>A,p.R1918H
SCN2A(NM_021007,sodium channel, voltage-gated, type II, alpha subunit,2005aa) g.2:166245784A>C,c.5468A>C,p.D1823A
SCN2A(NM_021007,sodium channel, voltage-gated, type II, alpha subunit,2005aa) g.2:166243269G>C,c.4565G>C,p.G1522A
SCN2A(NM_021007,sodium channel, voltage-gated, type II, alpha subunit,2005aa) g.2:166201225A>G,c.2723A>G,p.K908R
SCN2A(NM_021007,sodium channel, voltage-gated, type II, alpha subunit,2005aa) g.2:166179835C>T,c.1841C>T,p.P614L
SCN2A(NM_021007,sodium channel, voltage-gated, type II, alpha subunit,2005aa) g.2:166172168G>A,c.1571G>A,p.R524Q
SCN2A(NM_021007,sodium channel, voltage-gated, type II, alpha subunit,2005aa) g.2:166152433G>A,c.100G>A,p.A34T
SCN2A(NM_021007,sodium channel, voltage-gated, type II, alpha subunit,2005aa) g.2:166152389G>A,c.56G>A,p.R19K
SCN1B(NM_001037,sodium channel, voltage-gated, type I, beta subunit,218aa) g.19:35530580G>A,c.632G>A,p.C211Y
SCN1B(NM_001037,sodium channel, voltage-gated, type I, beta subunit,218aa) g.19:35530138C>T,c.566C>T,p.T189M
SCN1B(NM_001037,sodium channel, voltage-gated, type I, beta subunit,218aa) g.19:35524607G>A,c.412G>A,p.V138I
SCN1A(NM_001202435,sodium channel, voltage-gated, type I, alpha subunit,2009aa) g.2:166930052C>G,c.80G>C,p.R27T
SCN1A(NM_001202435,sodium channel, voltage-gated, type I, alpha subunit,2009aa) g.2:166929997G>C,c.135C>G,p.D45E
SCN1A(NM_001202435,sodium channel, voltage-gated, type I, alpha subunit,2009aa) g.2:166901716C>T,c.1499G>A,p.R500Q
SCN1A(NM_001202435,sodium channel, voltage-gated, type I, alpha subunit,2009aa) g.2:166901590C>T,c.1625G>A,p.R542Q
This is an excerpt of data-sheet including the published polymorphism sites observed in our studies. For the complete variant lists and potential collaboration, please contact huh@cougarlab.org