Transcript #00019257

Transcript name transcript variant 1
Gene name SLC29A3 (solute carrier family 29 (nucleoside transporters), member 3)
Chromosome 10
Transcript - NCBI ID NM_018344.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_060814.4
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

53 entries on 1 page. Showing entries 1 - 53.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.73C>T r.(?) p.(Arg25*)
-?/. - c.74G>A r.(?) p.(Arg25Gln)
-?/. - c.128T>G r.(?) p.(Leu43Arg)
?/. - c.146G>C r.(?) p.(Arg49Pro)
-?/. - c.269C>T r.(?) p.(Thr90Ile)
+/. - c.300+1G>A r.spl? p.?
+/? 2i c.300+1G>A r.spl p.?
+/+ 3 c.307delTT r.(?) p.Phe103X
+/+? 3 c.347T>G r.(?) p.Met116Arg
+?/. - c.383+1G>A r.spl? p.?
-/. - c.383+8A>G r.(=) p.(=)
-?/. - c.384-9T>C r.(=) p.(=)
+?/+? 4 c.400C>T r.(?) p.Arg134Cys
-?/. - c.462G>A r.(?) p.(Lys154=)
-/. - c.473C>T r.(?) p.(Ser158Phe)
-?/. - c.497C>T r.(?) p.(Ala166Val)
?/. - c.583A>G r.(?) p.(Met195Val)
-/. - c.597G>A r.(?) p.(Gln199=)
+/? 4 c.607T>C r.(?) p.Ser203Pro
-?/. - c.618C>T r.(?) p.(Ala206=)
-/. - c.618C>T r.(?) p.(Ala206=)
-/. - c.714T>C r.(?) p.(Thr238=)
-/. - c.715G>A r.(?) p.(Val239Ile)
-?/. - c.831C>T r.(?) p.(Pro277=)
-/. - c.842T>C r.(?) p.(Leu281Pro)
-?/. - c.842T>C r.(?) p.(Leu281Pro)
+/+ 6 c.940del r.(?) p.(Tyr314ThrfsTer91)
-?/. - c.946T>G r.(?) p.(Phe316Val)
-/. - c.976A>G r.(?) p.(Ile326Val)
-/. - c.976A>G r.(?) p.(Ile326Val)
-?/. - c.1001A>G r.(?) p.(Asn334Ser)
-?/. - c.1001A>G r.(?) p.(Asn334Ser)
-?/. - c.1001A>G r.(?) p.(Asn334Ser)
-/. - c.1008T>C r.(?) p.(Gly336=)
+/? 6 c.1045del r.(?) p.(Leu349SerfsTer56)
+?/+? 6 c.1087C>T r.(?) p.Arg363Trp
+?/+? 6 c.1088G>A r.(?) p.Arg363Gln
-?/. - c.1146C>T r.(?) p.(Phe382=)
-?/. - c.1146C>T r.(?) p.(Phe382=)
+/? 6 c.1157G>A r.(?) p.Arg386Gln
?/. - c.1235A>G r.(?) p.(Asp412Gly)
+?/? 6 c.1279G>A r.(?) p.Gly427Ser
+?/+? 6 c.1309G>A r.(?) p.Gly437Arg
+/+? 6 c.1309G>A r.(?) p.Gly437Arg
+?/+? 6 c.1309G>A r.(?) p.Gly437Arg
+?/+? 6 c.1309G>A r.(?) p.Gly437Arg
+?/+? 6 c.1309G>A r.(?) p.Gly437Arg
+/+ 6 c.1330G>T r.(?) p.Glu444X
+/. - c.1346C>G r.(?) p.(Thr449Arg)
+/+? 6 c.1346C>G r.(?) p.Thr449Arg
?/? 6 c.1346C>G r.(?) p.Thr449Arg
-?/. - c.*711C>T r.(=) p.(=)
-?/. - c.*711C>T r.(=) p.(=)
Legend