Transcript #00000122 (NM_013339.3, ALG6 gene)

Transcript name asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)
Gene name ALG6 (asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae))
Chromosome 1
Transcript - NCBI ID NM_013339.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_037471.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

50 entries on 1 page. Showing entries 1 - 50.
Legend   How to query  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.53G>A r.(?) p.(Arg18Gln)
-?/. - c.54A>G r.(?) p.(Arg18=)
+/+ 3i c.167+5G>A r.(=) p.(=)
?/+? 3i c.167+5G>A r.(=) p.(=)
?/. - c.175A>G r.(?) p.(Asn59Asp)
?/. - c.218C>T r.(?) p.(Pro73Leu)
+?/. - c.257+2dup r.spl? p.?
+/. - c.257+5G>A r.spl? p.?
+/. - c.257+5G>A r.spl? p.?
+/. - c.257+5G>A r.spl? p.?
+/. - c.257+5G>A r.spl? p.?
+/. - c.257+5G>A r.spl? p.?
?/. - c.370T>G r.(?) p.(Tyr124Asp)
?/. 6 c.391T>C r.(?) p.(Tyr131His)
?/. 6 c.391T>C r.(?) p.(Tyr131His)
?/. 6 c.391T>C r.(?) p.(Tyr131His)
?/. 6 c.391T>C r.(?) p.(Tyr131His)
?/. 6 c.391T>C r.(?) p.(Tyr131His)
-?/. - c.391T>C r.(?) p.(Tyr131His)
-?/. - c.391T>C r.(?) p.(Tyr131His)
-/. - c.391T>C r.(?) p.(Tyr131His)
-?/. - c.391T>C r.(?) p.(Tyr131His)
-/. - c.391T>C r.(?) p.(Tyr131His)
?/. - c.495-2A>G r.spl? p.?
+?/. - c.680+2T>G r.spl? p.?
+?/. - c.897_899del r.(?) p.(Ile299del)
+/. - c.897_899del r.(?) p.(Ile299del)
+/. - c.897_899del r.(?) p.(Ile299del)
?/+? 11 c.908_910del r.(?) p.(Cys303del)
-/. - c.911C>T r.(?) p.(Ser304Phe)
-/. - c.911C>T r.(?) p.(Ser304Phe)
+?/. - c.997G>C r.(?) p.(Ala333Pro)
+/+ 12 c.998C>T r.(?) p.(Ala333Val)
?/+? 12 c.998C>T r.(?) p.(Ala333Val)
?/+? 12 c.998C>T r.(?) p.(Ala333Val)
?/+? 12 c.998C>T r.(?) p.(Ala333Val)
+/. - c.998C>T r.(?) p.(Ala333Val)
?/+? 12 c.998C>T r.(?) p.(Ala333Val)
+/. - c.998C>T r.(?) p.(Ala333Val)
?/+? 12 c.998C>T r.(?) p.(Ala333Val)
?/+? 12 c.998C>T r.(?) p.(Ala333Val)
?/+? 12 c.998C>T r.(?) p.(Ala333Val)
+/. - c.998C>T r.(?) p.(Ala333Val)
+?/. - c.998C>T r.(?) p.(Ala333Val)
+/. - c.998C>T r.(?) p.(Ala333Val)
?/. 12 c.998C>T r.(?) p.(Ala333Val)
+?/. - c.1061C>T r.(?) p.(Pro354Leu)
-?/. - c.1327-9dup r.(=) p.(=)
?/+? 15 c.1338dup r.(?) p.(Val447Serfs*44)
+?/. - c.1355T>G r.(?) p.(Leu452Arg)
Legend   How to query