Transcript #00020258 (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 -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

55 entries on 1 page. Showing entries 1 - 55.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.81C>T r.(?) p.(Asn27=)
?/. - c.117_122dup r.(?) p.(Ala41_Ala42dup)
-/. - c.162A>C r.(?) p.(Leu54=)
-?/. - c.300C>T r.(?) p.(His100=)
-/. - c.327+89T>G r.(=) p.(=)
-/. - c.328-17T>C r.(=) p.(=)
+?/. - c.529A>C r.(?) p.(Asn177His)
+/. - c.544G>C r.(?) p.(Ala182Pro)
?/. - c.547C>T r.(?) p.(Arg183Trp)
?/. - c.631+130del r.(=) p.(=)
-/. - c.632-84T>C r.(=) p.(=)
-/. - c.632-49del r.(=) p.(=)
-?/. - c.723G>A r.(?) p.(Thr241=)
-/. - c.723G>T r.(?) p.(Thr241=)
-/. - c.756+69G>C r.(=) p.(=)
?/. - c.761G>C r.(?) p.(Cys254Ser)
-/. - c.786T>C r.(?) p.(Asn262=)
-/. - c.786T>C r.(=) p.(=)
-/. - c.786T>C r.(?) p.(Asn262=)
?/. - c.821G>C r.(?) p.(Gly274Ala)
-/. - c.850+34G>A r.(=) p.(=)
-/. - c.851-30G>C r.(=) p.(=)
-?/. - c.853A>G r.(?) p.(Met285Val)
+?/. - c.893A>G r.(?) p.(Tyr298Cys)
?/. - c.957-22A>G r.(=) p.(=)
?/. - c.977G>A r.(?) p.(Arg326His)
-?/. - c.1050C>T r.(?) p.(Gly350=)
-/. - c.1065A>T r.(?) p.(Thr355=)
+/. - c.1075G>A r.(?) p.(Val359Met)
+/. 11 c.1075G>A r.(?) p.(Val359Met)
+?/. - c.1142T>C r.(?) p.(Phe381Ser)
+/. - c.1145G>T r.(?) p.(Gly382Val)
+/. 13 c.1145G>T r.(?) p.(Gly382Val)
+/. 13 c.1145G>T r.(?) p.(Gly382Val)
+?/. - c.1148C>T r.(?) p.(Ala383Val)
+/. - c.1151C>T r.(?) p.(Ser384Phe)
-?/. - c.1176+7G>A r.(=) p.(=)
?/. - c.1176+98C>T r.(=) p.(=)
?/. - c.1176+101A>G r.(=) p.(=)
-/. - c.1177-49G>A r.(=) p.(=)
-?/. - c.1227G>A r.(?) p.(Thr409=)
-/. - c.1304-14299C>T r.(=) p.(=)
-/. - c.1304-34G>T r.(=) p.(=)
-/. - c.1304-34G>T r.(=) p.(=)
-/. - c.1440-63G>A r.(=) p.(=)
-/. - c.1440-30T>G r.(=) p.(=)
+/. - c.1510A>T r.(?) p.(Ile504Phe)
+/. 15 c.1510A>T r.(?) p.(Ile504Phe)
+?/. - c.1513G>A r.(?) p.(Glu505Lys)
-?/. - c.1664C>T r.(?) p.(Thr555Met)
-?/. - c.1664C>T r.(?) p.(Thr555Met)
-/. - c.1664C>T r.(?) p.(Thr555Met)
?/. - c.1664C>T r.(?) p.(Thr555Met)
-/. - c.*6T>G r.(=) p.(=)
-/. - c.*6T>G r.(=) p.(=)
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