Transcript #00016126

Transcript name sodium channel, voltage-gated, type IV, alpha subunit
Gene name SCN4A (sodium voltage-gated channel alpha subunit 4)
Chromosome 17
Transcript - NCBI ID NM_000334.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000325.4
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.235C>T r.(?) p.(Pro79Ser)
./. - c.248T>C r.(?) p.(Leu83Pro)
./. - c.273+19T>G r.(=) p.(=)
./. - c.318C>T r.(=) p.(=)
./. - c.355G>A r.(?) p.(Val119Ile)
./. - c.366C>T r.(=) p.(=)
./. - c.392+25C>T r.(=) p.(=)
./. - c.392+45C>T r.(=) p.(=)
./. - c.404T>C r.(?) p.(Met135Thr)
./. - c.483-123G>A r.(=) p.(=)
./. - c.483-25T>C r.(=) p.(=)
./. - c.483-5C>A r.spl? p.?
./. - c.483-5C>T r.spl? p.?
./. - c.489C>G r.(=) p.(=)
./. - c.569G>A r.(?) p.(Arg190Gln)
./. - c.612-94G>A r.(=) p.(=)
./. - c.612-40A>C r.(=) p.(=)
./. - c.703+55T>C r.(=) p.(=)
./. - c.703+158C>A r.(=) p.(=)
./. - c.726C>T r.(=) p.(=)
./. - c.864C>T r.(=) p.(=)
./. - c.968C>T r.(?) p.(Thr323Met)
./. - c.1011T>C r.(=) p.(=)
./. - c.1036+84_1036+85insG r.(=) p.(=)
./. - c.1036+89del r.(=) p.(=)
./. - c.1036+89dup r.(=) p.(=)
./. - c.1036+90G>T r.(=) p.(=)
./. - c.1036+90_1036+91insTT r.(=) p.(=)
./. - c.1036+165C>T r.(=) p.(=)
./. - c.1037-112G>A r.(=) p.(=)
./. - c.1037-93C>T r.(=) p.(=)
./. - c.1100+7G>A r.(=) p.(=)
./. - c.1100+62T>G r.(=) p.(=)
./. - c.1100+83C>G r.(=) p.(=)
./. - c.1100+115T>G r.(=) p.(=)
./. - c.1101-91G>C r.(=) p.(=)
./. - c.1101-34C>T r.(=) p.(=)
./. - c.1167T>C r.(=) p.(=)
./. - c.1243-41A>G r.(=) p.(=)
./. - c.1281C>T r.(=) p.(=)
./. - c.1366G>A r.(?) p.(Ala456Thr)
./. - c.1452+89G>C r.(=) p.(=)
./. - c.1453-132C>A r.(=) p.(=)
./. - c.1453-23C>T r.(=) p.(=)
./. - c.1453-4A>G r.spl? p.?
./. - c.1570A>G r.(?) p.(Ser524Gly)
./. - c.1606+20G>A r.(=) p.(=)
./. - c.1606+54C>G r.(=) p.(=)
./. - c.1606+75T>C r.(=) p.(=)
./. - c.1607-52G>A r.(=) p.(=)
./. - c.1653C>T r.(=) p.(=)
./. - c.1845+2T>G r.spl? p.?
./. - c.1845+3A>G r.spl? p.?
./. - c.1845+7A>G r.(=) p.(=)
./. - c.1845+12C>G r.(=) p.(=)
./. - c.1845+18A>G r.(=) p.(=)
./. - c.1845+40T>G r.(=) p.(=)
./. - c.1845+44A>G r.(=) p.(=)
./. - c.1845+49G>C r.(=) p.(=)
./. - c.1845+57C>T r.(=) p.(=)
./. - c.2020-49G>A r.(=) p.(=)
./. - c.2214C>A r.(?) p.(Asn738Lys)
./. - c.2289C>T r.(=) p.(=)
./. - c.2341G>A r.(?) p.(Val781Ile)
./. - c.2376+43G>A r.(=) p.(=)
./. - c.2376+87A>G r.(=) p.(=)
./. - c.2421C>T r.(=) p.(=)
./. - c.2631T>C r.(=) p.(=)
./. - c.2645C>A r.(?) p.(Pro882Gln)
./. - c.2717G>C r.(?) p.(Ser906Thr)
./. - c.2722G>A r.(?) p.(Glu908Lys)
./. - c.2853+8G>A r.(=) p.(=)
./. - c.2853+30C>T r.(=) p.(=)
./. - c.2854-153A>G r.(=) p.(=)
./. - c.2854-96C>G r.(=) p.(=)
./. - c.2890G>A r.(?) p.(Val964Ile)
./. - c.2919C>T r.(=) p.(=)
./. - c.2989+5G>A r.spl? p.?
./. - c.2989+59G>A r.(=) p.(=)
./. - c.3001C>T r.(?) p.(Arg1001Cys)
./. - c.3145-98A>C r.(=) p.(=)
./. - c.3285C>T r.(=) p.(=)
./. - c.3318+12C>A r.(=) p.(=)
./. - c.3318+15G>A r.(=) p.(=)
./. - c.3318+18G>A r.(=) p.(=)
./. - c.3319-46G>A r.(=) p.(=)
./. - c.3441+102G>A r.(=) p.(=)
./. - c.3441+164G>C r.(=) p.(=)
./. - c.3441+175C>G r.(=) p.(=)
./. - c.3441+181C>T r.(=) p.(=)
./. - c.3442-5C>G r.spl? p.?
./. - c.3688G>A r.(?) p.(Val1230Met)
./. - c.3720+9G>T r.(=) p.(=)
./. - c.3720+10A>G r.(=) p.(=)
./. - c.3720+50C>G r.(=) p.(=)
./. - c.3720+60_3720+61insC r.(=) p.(=)
./. - c.3759C>T r.(=) p.(=)
./. - c.3774+7C>T r.(=) p.(=)
./. - c.3774+8G>A r.(=) p.(=)
./. - c.3774+88C>T r.(=) p.(=)
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