Transcript #00003577

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

46 entries on 1 page. Showing entries 1 - 46.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-53+2818G>C - -
./. - c.-53+4831G>A - -
./. - c.-53+6557C>A - -
./. - c.-52-6543T>C r.(=) p.(=)
./. - c.-52-6367G>C r.(=) p.(=)
./. - c.-52-3650G>C r.(=) p.(=)
./. - c.-52-1835C>A - -
./. - c.-52-561G>C - -
./. - c.393-3592G>C - -
./. - c.393-2601T>G - -
./. - c.393-2055G>A - -
./. - c.393-1942G>C - -
./. - c.482+185G>A r.(=) p.(=)
./. - c.611+802G>A - -
./. - c.611+3060G>A r.(=) p.(=)
./. - c.612-2619T>C - -
./. - c.612-2573T>A - -
./. - c.612-707T>C r.(=) p.(=)
./. - c.703+542G>A - -
./. - c.704-1494G>C - -
./. - c.704-1428T>G - -
./. - c.999-519T>C - -
./. - c.1339-23G>A - -
./. - c.1890+1675T>C - -
./. - c.1891-592T>G - -
./. - c.2263-5077T>G r.(=) p.(=)
./. - c.2263-3565T>A r.(=) p.(=)
./. - c.2263-749T>C - -
./. - c.2263-702T>G r.(=) p.(=)
./. - c.2787+495T>C r.(=) p.(=)
./. - c.2787+1474T>A - -
./. - c.2788-827T>G - -
./. - c.3184T>C - -
./. - c.3391-1075G>C - -
./. - c.3391-1039G>A r.(=) p.(=)
./. - c.3666+2542T>A - -
./. - c.3667-4152T>A - -
./. - c.3667-3630G>A - -
./. - c.3667-511T>C r.(=) p.(=)
./. - c.3841-1703G>C - -
./. - c.3964-935G>A r.(=) p.(=)
./. - c.4246-261T>C - -
./. - c.4542+294G>A r.(=) p.(=)
./. - c.4813+347T>C - -
./. - c.4813+798C>A - -
./. - c.5458G>A r.(?) p.(Ala1820Thr)
Legend