Transcript #00000059 (NM_006415.3, SPTLC1 gene)

Transcript name 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

11 entries on 1 page. Showing entries 1 - 11.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
?/. 2 c.113T>G r.(113u>g) p.(Leu38Arg) - -
?/. 4 c.342C>A r.(342c>a) p.(Asn114Lys) - -
./. 5 c.398G>A r.(?) p.(Cys133Tyr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
./. 5 c.399T>G r.(?) p.(Cys133Trp) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
./. 5 c.399T>G r.(?) p.(Cys133Trp) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
./. 6 c.431T>A r.(?) p.(Val144Asp) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
./. 10 c.929C>G r.(?) p.(Ala310Gly) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
./. 11 c.992C>A r.(?) p.(Ser331Tyr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
./. 11 c.992C>T r.(?) p.(Ser331Phe) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
./. 11 c.992C>T r.(?) p.(Ser331Phe) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
./. 12 c.1055C>T r.(?) p.(Ala352Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
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