Transcript #00016721

Transcript name transcript variant 1
Gene name SCNN1D (sodium channel, non-voltage-gated 1, delta subunit)
Chromosome 1
Transcript - NCBI ID NM_001130413.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_001123885.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

299 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.357_358del r.(?) p.(Gly121Leufs*151)
?/? c.376C>G r.(?) p.(Gln126Glu)
?/? c.396G>T r.(=) p.(=)
?/? c.445del r.(?) p.(Ala151Leufs*18)
?/? c.447G>C r.(=) p.(=)
?/? c.464+17del r.(=) p.(=)
?/? c.468G>A r.(=) p.(=)
?/? c.515A>G r.(?) p.(Gln172Arg)
?/? c.559-30C>T r.(=) p.(=)
?/? c.559-4A>G r.spl? p.?
?/? c.585G>A r.(=) p.(=)
?/? c.599_601del r.(?) p.(Pro205del)
?/? c.635G>C r.(?) p.(Gly212Ala)
?/? c.662G>A r.(?) p.(Arg221Gln)
?/? c.675C>G r.(=) p.(=)
?/? c.712C>T r.(?) p.(Arg238Cys)
?/? c.713G>A r.(?) p.(Arg238His)
?/? c.728G>A r.(?) p.(Arg243His)
?/? c.729C>T r.(=) p.(=)
?/? c.730G>A r.(?) p.(Gly244Arg)
?/? c.742_743del r.(?) p.(Lys248Aspfs*24)
?/? c.746C>T r.(?) p.(Thr249Met)
?/? c.749C>T r.(?) p.(Thr250Met)
?/? c.750G>A r.(=) p.(=)
?/? c.783C>T r.(=) p.(=)
?/? c.786G>A r.(=) p.(=)
?/? c.817C>T r.(?) p.(Arg273Cys)
?/? c.818G>A r.(?) p.(Arg273His)
?/? c.838C>G r.(?) p.(Leu280Val)
?/? c.846C>T r.(=) p.(=)
?/? c.865C>T r.(?) p.(Arg289Cys)
?/? c.866G>A r.(?) p.(Arg289His)
?/? c.879G>T r.(=) p.(=)
?/? c.897C>T r.(=) p.(=)
?/? c.911+42C>T r.(=) p.(=)
?/? c.911+53del r.(=) p.(=)
?/? c.912-37G>A r.(=) p.(=)
?/? c.912-13C>T r.(=) p.(=)
?/? c.912-11C>T r.(=) p.(=)
?/? c.912-8C>T r.(=) p.(=)
?/? c.912-4C>G r.spl? p.?
?/? c.914C>T r.(?) p.(Pro305Leu)
?/? c.929G>A r.(?) p.(Arg310His)
?/? c.945G>A r.(=) p.(=)
?/? c.972C>T r.(=) p.(=)
?/? c.982A>T r.(?) p.(Asn328Tyr)
?/? c.984C>T r.(=) p.(=)
?/? c.985G>A r.(?) p.(Val329Ile)
?/? c.1024G>A r.(?) p.(Val342Ile)
?/? c.1031G>C r.(?) p.(Arg344Pro)
?/? c.1035C>T r.(=) p.(=)
?/? c.1036G>A r.(?) p.(Glu346Lys)
?/? c.1043C>G r.(?) p.(Pro348Arg)
?/? c.1076G>A r.(?) p.(Arg359Lys)
?/? c.1088C>T r.(?) p.(Ser363Leu)
?/? c.1089G>A r.(=) p.(=)
?/? c.1096C>T r.(?) p.(Arg366Trp)
?/? c.1097G>A r.(?) p.(Arg366Gln)
?/? c.1115G>A r.(?) p.(Arg372Lys)
?/? c.1119+8T>G r.(=) p.(=)
?/? c.1119+15C>T r.(=) p.(=)
?/? c.1119+27C>T r.(=) p.(=)
?/? c.1119+52C>T r.(=) p.(=)
?/? c.1120-49C>T r.(=) p.(=)
?/? c.1120-48G>A r.(=) p.(=)
?/? c.1120-3C>T r.spl? p.?
?/? c.1128_1129del r.(?) p.(Thr377Glyfs*98)
?/? c.1130C>T r.(?) p.(Thr377Met)
?/? c.1134C>T r.(=) p.(=)
?/? c.1135G>A r.(?) p.(Gly379Ser)
?/? c.1136G>A r.(?) p.(Gly379Asp)
?/? c.1137C>T r.(=) p.(=)
?/? c.1140C>T r.(=) p.(=)
?/? c.1146T>C r.(=) p.(=)
?/? c.1150C>T r.(?) p.(Arg384*)
?/? c.1159A>T r.(?) p.(Thr387Ser)
?/? c.1160C>T r.(?) p.(Thr387Met)
?/? c.1167C>T r.(=) p.(=)
?/? c.1172C>T r.(?) p.(Ala391Val)
?/? c.1173G>A r.(=) p.(=)
?/? c.1182G>A r.(=) p.(=)
?/? c.1185C>G r.(?) p.(Asp395Glu)
?/? c.1198C>T r.(?) p.(His400Tyr)
?/? c.1227C>T r.(=) p.(=)
?/? c.1229C>T r.(?) p.(Ala410Val)
?/? c.1261G>A r.(?) p.(Gly421Ser)
?/? c.1278C>A r.(=) p.(=)
?/? c.1287C>T r.(=) p.(=)
?/? c.1288G>A r.(?) p.(Asp430Asn)
?/? c.1310+11C>T r.(=) p.(=)
?/? c.1310+15C>T r.(=) p.(=)
?/? c.1310+16G>C r.(=) p.(=)
?/? c.1310+31C>T r.(=) p.(=)
?/? c.1310+48C>T r.(=) p.(=)
?/? c.1310+49G>A r.(=) p.(=)
?/? c.1311-50C>T r.(=) p.(=)
?/? c.1311-46C>T r.(=) p.(=)
?/? c.1311-45G>A r.(=) p.(=)
?/? c.1311-44C>A r.(=) p.(=)
?/? c.1311-40del r.(=) p.(=)
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