Transcript #00000331 (NM_001281303.2, SPTLC1 gene)

Transcript name serine palmitoyltransferase long chain base subunit 1, transcript variant 3
Gene name SPTLC1 (serine palmitoyltransferase, long chain base subunit 1)
Chromosome 9
Transcript - NCBI ID NM_001281303.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001268232.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

15 entries on 1 page. Showing entries 1 - 15.
Legend   How to query  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
-/. 6 c.452G>A r.(452g>a) p.(Arg151His) - -
-/. 7 c.640A>G r.(640a>g) p.(Met214Val) - -
?/. 7 c.682G>A r.(682g>a) p.(Asp228Asn) - -
?/. 7 c.686A>G r.(686a>g) p.(Gln229Arg) - -
?/. 8 c.716G>A r.(716g>a) p.(Arg239Gln) - -
?/. 11 c.991T>A r.(991u>a) p.(Ser331Thr) - -
?/. 11 c.1018_1024dup r.(1018_1024dup) p.(Pro342Leufs*12) - -
?/. 11 c.1079C>T r.(1079c>u) p.(Pro360Leu) - -
?/. 13 c.1198G>T r.(1198g>u) (Glu400*) - -
?/. 13 c.1205C>G r.(1205c>g) p.(Thr402Ser) - -
?/. 13 c.1214G>A r.(1214g>a) p.(Arg405His) - -
?/. 13 c.1216G>A r.(1216g>a) p.(Glu406Lys) - -
?/. 15 c.1504A>G r.(1504a>g) p.(Ile502Val) - -
?/. 15 c.1514A>C r.(1514a>c) p.(Lys505Thr) - -
?/. 15 c.1526A>G r.(1526a>g) p.(Tyr509Cys) - -
Legend   How to query