Transcript #00000060 (NM_004863.3, SPTLC2 gene)

Transcript name serine palmitoyltransferase, long chain base subunit 2
Gene name SPTLC2 (serine palmitoyltransferase, long chain base subunit 2)
Chromosome 14
Transcript - NCBI ID NM_004863.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_004854.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

20 entries on 1 page. Showing entries 1 - 20.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
?/. 2 c.73G>C r.(?) p.(Val25Leu) - -
?/. 2 c.139C>T r.(?) p.(His47Tyr) - -
?/. 2 c.283delinsGA r.(?) p.(Arg95Glufs*3) - -
?/. 2 c.287T>C r.(?) p.(Ile96Thr) - -
?/. 2 c.326A>G r.(?) p.(Lys109Arg) - -
?/. 3 c.407G>A r.(?) p.(Arg136Gln) - -
?/. 5 c.435G>T r.(?) p.(Arg145Ser) - -
?/. 5 c.692C>G r.(?) p.(Ala231Gly) - -
?/. 7 c.899A>G r.(?) p.(Gln300Arg) - -
./. 8 c.1075G>A r.(?) p.(Val359Met) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
./. 8 c.1145G>T r.(?) p.(Gly382Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
./. 8 c.1151C>T r.(?) p.(Ser384Phe) - -
?/. 9 c.1226C>T r.(?) p.(Thr409Met) - -
?/. 9 c.1261A>G r.(?) p.(Thr421Ala) - -
?/. 10 c.1304G>T r.(?) p.(Gly435Val) - -
?/. 10 c.1417C>G r.(?) p.(Leu473Val) - -
?/. 11 c.1475G>A r.(?) p.(Gly492Asp) - -
./. 11 c.1510A>T r.(?) p.(Ile504Phe) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
?/. 12 c.1621C>T r.(?) p.(Arg541Cys) - -
?/. 12 c.1681G>A r.(?) p.(Glu561Lys) - -
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