Transcript #00008678

Transcript name serine palmitoyltransferase, long chain base subunit 1, transcript variant 1
Gene name SPTLC1 (serine palmitoyltransferase long chain base subunit 1)
Chromosome 9
Transcript - NCBI ID NM_006415.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_006406.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

48 entries on 1 page. Showing entries 1 - 48.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-64T>C r.(=) p.(=)
./. - c.58-87A>C r.(=) p.(=)
./. - c.58-56G>A r.(=) p.(=)
./. - c.261C>T r.(=) p.(=)
./. - c.354+45T>G r.(=) p.(=)
./. - c.354+173G>A r.(=) p.(=)
./. - c.427+40A>G r.(=) p.(=)
./. - c.427+130G>T r.(=) p.(=)
./. - c.427+299T>C r.(=) p.(=)
./. - c.427+318C>T r.(=) p.(=)
./. - c.427+329G>A r.(=) p.(=)
./. - c.427+361C>T r.(=) p.(=)
./. - c.427+391A>G r.(=) p.(=)
./. - c.427+446C>T r.(=) p.(=)
./. - c.427+571C>T r.(=) p.(=)
./. - c.427+598T>C r.(=) p.(=)
./. - c.427+606C>A r.(=) p.(=)
./. - c.452G>T r.(?) p.(Arg151Leu)
./. - c.560+16G>C r.(=) p.(=)
./. - c.561-151_561-150del r.(=) p.(=)
./. - c.561-102T>G r.(=) p.(=)
./. - c.561-76C>G r.(=) p.(=)
./. - c.561-54A>G r.(=) p.(=)
./. - c.690+63A>C r.(=) p.(=)
./. - c.691-107del r.(=) p.(=)
./. - c.691-100del r.(=) p.(=)
./. - c.691-60T>C r.(=) p.(=)
./. - c.780+92C>T r.(=) p.(=)
./. - c.781-6A>G r.(=) p.(=)
./. - c.784A>G r.(?) p.(Lys262Glu)
./. - c.889-96G>T r.(=) p.(=)
./. - c.985-74A>G r.(=) p.(=)
./. - c.985-5C>T r.spl? p.?
./. - c.1081+47G>A r.(=) p.(=)
./. - c.1136+12A>G r.(=) p.(=)
./. - c.1136+66G>A r.(=) p.(=)
./. - c.1136+89C>G r.(=) p.(=)
./. - c.1136+118A>G r.(=) p.(=)
./. - c.1137-43C>G r.(=) p.(=)
./. - c.1137-14_1137-13insGT r.(=) p.(=)
./. - c.1255-84G>A r.(=) p.(=)
./. - c.1255-7C>T r.(=) p.(=)
./. - c.1328+52A>G r.(=) p.(=)
./. - c.1328+89A>C r.(=) p.(=)
./. - c.1329-76A>G r.(=) p.(=)
./. - c.1329-9T>C r.(=) p.(=)
./. - c.*112G>A r.(=) p.(=)
./. - c.*124A>G r.(=) p.(=)
Legend