Transcript #00000001

Transcript name sodium channel, voltage gated, type I alpha subunit, transcript variant 1
Gene name SCN1A (sodium voltage-gated channel alpha subunit 1)
Chromosome 2
Transcript - NCBI ID NM_001165963.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001159435.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

16 entries on 1 page. Showing entries 1 - 16.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./+? 2 c.296_313delTCTTCCGGTTCAGTGCCA r.(?) p.(Ile99_Ala104del)
./+? 2i c.383+1A>G r.spl? p.?
./+? 4i c.602+1G>A r.spl? p.?
./+? 6 c.829T>C r.(?) p.(Cys277Arg)
./+? 7 c.971A>C r.(?) p.(His324Pro)
+?/. 8i c.1170+3G>T r.spl? p.?
./+? 9 c.1242delA r.(?) p.(Ile415*)
./+? 13 c.2360T>G r.(?) p.(Met787Arg)
./+? 19 c.3719_3720insGATA r.(?) p.(Ile1240Metfs*5)
./+? 21 c.4093G>T r.(?) p.(Gly1365Cys)
+?/. 21i c.4284+1G>A r.spl? p.?
./+? 26 c.5177G>A r.(?) p.(Trp1726*)
./+? 26 c.5179G>T r.(?) p.(Asp1727Tyr)
./+? 26 c.5329delG r.(?) p.(Val1777Trpfs*2)
./+? 26 c.5434T>C r.(?) p.(Trp1812Arg)
./+? 26 c.5489_5491delAGT r.(?) p.(Gln1830_Phe1831delinsLeu)
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