Transcript #00003257

Transcript name sodium channel, voltage-gated, type V, alpha subunit, transcript variant 1
Gene name SCN5A (sodium voltage-gated channel alpha subunit 5)
Chromosome 3
Transcript - NCBI ID NM_198056.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_932173.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

110 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-52-71C>T r.(=) p.(=)
./. - c.87A>G r.(=) p.(=)
./. - c.100C>T r.(?) p.(Arg34Cys)
./. - c.273+51G>A r.(=) p.(=)
./. - c.273+107_273+108insCG r.(=) p.(=)
./. - c.273+112C>T r.(=) p.(=)
./. - c.274-25G>A r.(=) p.(=)
./. - c.274-24C>T r.(=) p.(=)
./. - c.354C>T r.(=) p.(=)
./. - c.392+34C>A r.(=) p.(=)
./. - c.482+16G>C r.(=) p.(=)
./. - c.612-318G>A r.(=) p.(=)
./. - c.673C>T r.(?) p.(Arg225Trp)
./. - c.703+45C>A r.(=) p.(=)
./. - c.704-42G>A r.(=) p.(=)
./. - c.717C>T r.(=) p.(=)
./. - c.934+66C>T r.(=) p.(=)
./. - c.935-93G>A r.(=) p.(=)
./. - c.935-46C>G r.(=) p.(=)
./. - c.998+107G>A r.(=) p.(=)
./. - c.999-58G>T r.(=) p.(=)
./. - c.999-34C>T r.(=) p.(=)
./. - c.1068T>C r.(=) p.(=)
./. - c.1140+98G>A r.(=) p.(=)
./. - c.1141-3C>A r.spl? p.?
./. - c.1302C>T r.(=) p.(=)
./. - c.1338+97C>T r.(=) p.(=)
./. - c.1339-24G>A r.(=) p.(=)
./. - c.1381T>G r.(?) p.(Leu461Val)
./. - c.1441C>T r.(?) p.(Arg481Trp)
./. - c.1518+55A>C r.(=) p.(=)
./. - c.1518+74C>T r.(=) p.(=)
./. - c.1518+91G>A r.(=) p.(=)
./. - c.1569T>A r.(=) p.(=)
./. - c.1571C>A r.(?) p.(Ser524Tyr)
./. - c.1577G>A r.(?) p.(Arg526His)
./. - c.1587T>C r.(=) p.(=)
./. - c.1673A>G r.(?) p.(His558Arg)
./. - c.1681C>T r.(=) p.(=)
./. - c.1715C>A r.(?) p.(Ala572Asp)
./. - c.1743G>A r.(=) p.(=)
./. - c.1820G>T r.(?) p.(Gly607Val)
./. - c.1890+14G>A r.(=) p.(=)
./. - c.1890+50C>T r.(=) p.(=)
./. - c.1891-90T>C r.(=) p.(=)
./. - c.1891-24C>T r.(=) p.(=)
./. - c.1967C>T r.(?) p.(Pro656Leu)
./. - c.2024-87G>A r.(=) p.(=)
./. - c.2199C>T r.(=) p.(=)
./. - c.2262+33del r.(=) p.(=)
./. - c.2436+12G>A r.(=) p.(=)
./. - c.2436+39_2436+40insG r.(=) p.(=)
./. - c.2437-133_2437-132insT r.(=) p.(=)
./. - c.2437-130_2437-129insAG r.(=) p.(=)
./. - c.2437-128_2437-127insAG r.(=) p.(=)
./. - c.2437-127_2437-126insG r.(=) p.(=)
./. - c.2437-127_2437-126insGG r.(=) p.(=)
./. - c.2437-102del r.(=) p.(=)
./. - c.2437-97T>C r.(=) p.(=)
./. - c.2437-44G>A r.(=) p.(=)
./. - c.2437-5C>A r.spl? p.?
./. - c.2645T>C r.(?) p.(Met882Thr)
./. - c.2787+17_2787+18insACACACACACACACACACACACA r.(=) p.(=)
./. - c.2787+17_2787+18insACACACACACACACACACACACACA r.(=) p.(=)
./. - c.2788-6C>T r.(=) p.(=)
./. - c.3043G>A r.(?) p.(Glu1015Lys)
./. - c.3183A>G r.(=) p.(=)
./. - c.3229-117G>A r.(=) p.(=)
./. - c.3229-30G>A r.(=) p.(=)
./. - c.3249C>T r.(=) p.(=)
./. - c.3308C>A r.(?) p.(Ser1103Tyr)
./. - c.3390+119G>A r.(=) p.(=)
./. - c.3391-16A>T r.(=) p.(=)
./. - c.3511+72T>C r.(=) p.(=)
./. - c.3578G>A r.(?) p.(Arg1193Gln)
./. - c.3666+134C>A r.(=) p.(=)
./. - c.3667-13G>T r.(=) p.(=)
./. - c.3841-100C>T r.(=) p.(=)
./. - c.3841-24C>T r.(=) p.(=)
./. - c.3963+105G>A r.(=) p.(=)
./. - c.4218G>A r.(=) p.(=)
./. - c.4245+82A>G r.(=) p.(=)
./. - c.4246-156A>T r.(=) p.(=)
./. - c.4299+28C>T r.(=) p.(=)
./. - c.4299+38_4299+46del r.(=) p.(=)
./. - c.4299+53T>C r.(=) p.(=)
./. - c.4299+116G>A r.(=) p.(=)
./. - c.4300-62T>C r.(=) p.(=)
./. - c.4300-57A>C r.(=) p.(=)
./. - c.4437+13C>T r.(=) p.(=)
./. - c.4437+65G>A r.(=) p.(=)
./. - c.4438-170A>C r.(=) p.(=)
./. - c.4438-94T>C r.(=) p.(=)
./. - c.4813+23C>T r.(=) p.(=)
./. - c.4814-85_4814-84insGCC r.(=) p.(=)
./. - c.4814-82C>G r.(=) p.(=)
./. - c.4814-82_4814-81insAC r.(=) p.(=)
./. - c.4814-82_4814-81insGC r.(=) p.(=)
./. - c.4814-81_4814-80insCC r.(=) p.(=)
./. - c.4814-80C>G r.(=) p.(=)
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