Transcript #00020257

Transcript name transcript variant 1
Gene name SPTLC1 (serine palmitoyltransferase, long chain base subunit 1)
Chromosome 9
Transcript - NCBI ID NM_006415.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_006406.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

50 entries on 1 page. Showing entries 1 - 50.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-19C>T r.(?) p.(=)
?/. - c.120C>G r.(?) p.(Phe40Leu)
-/. - c.165+71T>A r.(=) p.(=)
-/. - c.165+88T>A r.(=) p.(=)
?/. - c.223A>C r.(?) p.(Lys75Gln)
-/. - c.261-18A>G r.(=) p.(=)
?/. - c.367G>A r.(?) p.(Ala123Thr)
+/. - c.397T>C r.(?) p.(Cys133Arg)
+/. 5 c.397T>C r.(?) p.(Cys133Arg)
+/. - c.398G>A r.(?) p.(Cys133Tyr)
+/. 5 c.398G>A r.(?) p.(Cys133Tyr)
+/. - c.399T>G r.(?) p.(Cys133Trp)
+/. 5 c.399T>G r.(?) p.(Cys133Trp)
-?/. - c.427+446C>T r.(=) p.(=)
+/. - c.431T>A r.(?) p.(Val144Asp)
+/. 6 c.431T>A r.(?) p.(Val144Asp)
-/. - c.452G>T r.(?) p.(Arg151Leu)
-/. - c.452G>T r.(?) p.(Arg151Leu)
-?/. - c.452G>T r.(?) p.(Arg151Leu)
-?/. - c.452G>T r.(?) p.(Arg151Leu)
-/. - c.452G>T r.(?) p.(Arg151Leu)
-/. - c.560+16G>C r.(=) p.(=)
-/. - c.560+16G>C r.(=) p.(=)
?/. - c.655C>T r.(?) p.(Arg219Ter)
?/. - c.707G>T r.(?) p.(Arg236Leu)
-/. - c.781-6A>G r.(=) p.(=)
-/. - c.781-6A>G r.(=) p.(=)
-?/. - c.795C>T r.(?) p.(Tyr265=)
-?/. - c.889-6C>T r.(=) p.(=)
?/. - c.889-5G>A r.spl? p.?
-/. - c.985-5C>T r.spl? p.?
+/. - c.992C>T r.(?) p.(Ser331Phe)
+/. 11 c.992C>T r.(?) p.(Ser331Phe)
+/. 11 c.1055C>T r.(?) p.(Ala352Val)
-?/. - c.1111G>A r.(?) p.(Gly371Arg)
-/. - c.1136+12A>G r.(=) p.(=)
-/. - c.1136+66G>A r.(=) p.(=)
-/. - c.1137-43C>G r.(=) p.(=)
-/. - c.1137-15_1137-14dup r.(=) p.(=)
-/. - c.1160G>C r.(?) p.(Gly387Ala)
-?/. - c.1160G>C r.(?) p.(Gly387Ala)
+/. 13 c.1160G>C r.(?) p.(Gly387Ala)
-/. - c.1255-7C>T r.(=) p.(=)
-?/. - c.1411G>A r.(?) p.(Val471Ile)
-?/. - c.*45_*46del r.(=) p.(=)
?/. - c.*60C>T r.(=) p.(=)
-?/. - c.*61G>A r.(=) p.(=)
-?/. - c.*124A>G r.(=) p.(=)
?/. - c.*178del r.(=) p.(=)
-/. - c.*1389G>A r.(=) p.(=)
Legend