Transcript #00000286 (NM_012434.4, SLC17A5 gene)

Transcript name solute carrier family 17 (anion/sugar transporter), member 5
Gene name SLC17A5 (solute carrier family 17 (anion/sugar transporter), member 5)
Chromosome 6
Transcript - NCBI ID NM_012434.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_036566.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

62 entries on 1 page. Showing entries 1 - 62.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-2451640_*595735del r.0? p.0?
-/. - c.-174dup r.(?) p.(=)
-?/. - c.85G>A r.(?) p.(Ala29Thr)
+/+ 1i c.95-1G>C r.95_291del p.Ala32Glyfs*2
+/. - c.115C>T r.(?) p.(Arg39Cys)
+/. - c.115C>T r.(?) p.(Arg39Cys)
+/+ 2 c.115C>T r.115c>t p.Arg39Cys
+/. - c.115C>T r.(?) p.(Arg39Cys)
+/. - c.116G>A r.(?) p.(Arg39His)
+?/. - c.116G>A r.(?) p.(Arg39His)
+?/. - c.116G>A r.(?) p.(Arg39His)
-/. - c.246G>A r.(?) p.(Ala82=)
+/+ 2 c.291G>A r.95_291del p.Ala32Glyfs*2
+/. - c.291G>A r.spl? p.(Thr97=)
-/. - c.292-22T>C r.(=) p.(=)
+/+ 2i_4i c.293_613+1del r.292_613del p.(Gly98Glufs*7)
+/+ 3 c.309G>A r.309g>a p.Trp103*
-?/. - c.360C>T r.(?) p.(Ile120=)
+/+ 3 c.406A>G r.406a>g p.Lys136Glu
?/. - c.481G>A r.(?) p.(Val161Ile)
+?/+? 3 c.500T>C r.(?) p.(Leu167Pro)
+/. - c.507del r.(?) p.(Leu170Ter)
+/+ 3 c.507del r.507dela p.(Leu170*)
+/+ 3i_6i c.526_819del r.526_819del p.Gly176_Gln273del
+/. - c.533del r.(?) p.(Thr178AsnfsTer34)
-/. - c.606A>G r.(?) p.(Ser202=)
-?/. - c.704C>T r.(?) p.(Thr235Ile)
+/. - c.719G>A r.(?) p.(Trp240Ter)
+/+ 6 c.719G>A r.719g>a p.Trp240*
+?/. - c.723del r.(?) p.(Leu242PhefsTer6)
+/. - c.738_741del r.(?) p.(Ser249Thrfs*21)
+?/. - c.762dup r.(?) p.(His255ThrfsTer8)
+/. - c.802_816del r.(?) p.(Ser268_Asn272del)
+/+ 6 c.802_816del r.802_816del p.Ser268_Asn272del
+/. - c.819+1G>A r.spl p.?
-?/. - c.820-3C>T r.spl? p.?
?/. - c.842C>T r.(?) p.(Pro281Leu)
-?/. - c.886G>A r.(?) p.(Val296Ile)
-?/. - c.886G>A r.(?) p.(Val296Ile)
-?/. - c.886G>A r.(?) p.(Val296Ile)
-?/. - c.899C>T r.(?) p.(Ser300Phe)
?/. - c.899C>T r.(?) p.(Ser300Phe)
?/. - c.899C>T r.(?) p.(Ser300Phe)
+?/+? 8 c.918T>G r.(?) p.(Tyr306*)
+?/. - c.918T>G r.(?) p.(Tyr306*)
-?/. - c.957C>A r.(?) p.(Ile319=)
+?/+? 8 c.983G>A r.983g>a p.Gly328Glu
+/. - c.990dup r.(?) p.(Ser331IlefsTer20)
+/+ 8 c.1007_1008del r.1007_1008delta p.Leu336Trpfs*14
+/. - c.1111+1G>A r.spl? p.?
-/. - c.1111+7G>A r.(=) p.(=)
+/+ 9 c.1138_1139del r.1138_1139delgt p.Val380Serfs*8
+/. - c.1138_1139del r.(?) p.(Val380SerfsTer8)
?/. - c.1177G>A r.(?) p.(Val393Ile)
?/. - c.1192A>G r.(?) p.(Ile398Val)
+?/+? 9 c.1226G>A r.1226g>a p.Gly409Glu
?/. - c.1250T>C r.(?) p.(Ile417Thr)
?/. - c.1259C>T r.(?) p.(Ser420Leu)
-?/. - c.1278G>T r.(?) p.(Leu426=)
-?/. - c.1324G>A r.(?) p.(Val442Ile)
-?/. - c.1324G>A r.(?) p.(Val442Ile)
-/. - c.1351-23G>A r.(=) p.(=)
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