Transcript #00000003

Transcript name aspartylglucosaminidase, transcript variant 1
Gene name AGA (aspartylglucosaminidase)
Chromosome 4
Transcript - NCBI ID NM_000027.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000018.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

34 entries on 1 page. Showing entries 1 - 34.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     
+/+ 01 c.34G>T - r.(34g>u) p.(Val12Leu)
+/+ 01 c.44T>G - r.(44u>g) p.(Leu15Arg)
+/+ 01 c.102_108delGCCCTTT - r.102_108delgcccuuu p.Trp34*
+/+ 01-02 c.127_128insATGCGG - c.127_127+1insATGCGG p.Ala42_Ala43insAspAla
+/+ 02 c.179G>A - r.179g>a p.Gly60Asp
+/+ 02 c.192T>A - r.192u>a p.Cys64*
+/+ 02 c.200_201delAG - r.200_201delag p.Glu67Alafs*3
+/+ 02 c.214T>C - r.214u>c p.Ser72Pro
+/+ 03 c.299G>A - r.(299g>a) p.(Gly100Glu)
+/+ 03 c.302C>T - r.302c>u p.Ala101Val
+/+ 03 c.336del - r.336del p.Ile112Metfs*16
+/+? 03 c.346C>T - r.(346c>u) p.(Arg116Trp)
+/+ 03 c.369_373del - r.369_373del p.His124Thrfs*19
+/+ 03 c.373_376del - r.(373_376del) p.(Thr125Phefs*2)
+?/. 03 c.392C>T - r.(?) p.(Ser131Leu)
+/+ i03 c.395-8A>G - r.394_395insucuccag p.?
+/+ 04 c.404T>C - r.(404u>c) p.(Phe135Ser)
+/+? 04 c.439T>C - r.(439u>c) p.(Ser147Pro)
?/? 04 c.482G>A - r.482g>a p.Arg161Gln
?/. - c.482G>A - r.(?) p.(Arg161Gln)
?/. - c.488G>C - r.(?) p.(Cys163Ser)
+/+ 04 c.488G>C - r.488g>c p.Cys163Ser
+/+ 04 c.503G>A - r.(503g>a) p.(Trp168*)
+/+ 06 c.677G>A - r.[677g>a, del751_826] p.[Gly226Asp, p.Ala251*]
+/+ 07 c.754G>C - r.(754g>c) p.(Gly252Arg)
+/+ 07 c.755G>A - r.(755g>a) p.(Gly252Glu)
+/+ 07 c.770C>T - r.(770c>u) p.(Thr257Ile)
+/+ 07 c.788delT - r.788delu p.Leu263*
+/+ 07 c.800dup - r.800dupu p.Pro268Alafs*52
+/+ 08 c.904G>A - r.904g>a p.Gly302Arg
+/+ 08 c.916T>C - r.916u>c p.Cys306Arg
+/+ i08 c.940+1G>T - r.[=, 935_1068del] p.[=, 935_*27del]
+/+ i08 c.941-148_*1920del - r.spl p.?
+?/+? 09 c.1000G>T - r.(1000g>u) p.(Glu334*)
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