Transcript #00002374

Transcript name transcript variant 1
Gene name ALG8 (asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae))
Chromosome 11
Transcript - NCBI ID NM_024079.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_076984.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

35 entries on 1 page. Showing entries 1 - 35.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.32G>C r.(?) p.(Gly11Ala)
+/. - c.95+1G>A r.spl? p.?
?/. - c.96-6G>C r.(=) p.(=)
-?/. - c.96-6G>C r.(=) p.(=)
+/. - c.121C>T r.(?) p.(Arg41*)
+/+ 2 c.139A>C r.(?) p.(Thr47Pro)
+/+ 2 c.139A>C r.(?) p.(Thr47Pro)
-/. - c.174+30del r.(=) p.(=)
-/. - c.175-18C>A r.(=) p.(=)
+/+ 2i c.175-2A>G r.(=) p.(=)
+/+ 2i c.175-2A>G r.(=) p.(=)
-?/. - c.441A>T r.(?) p.(Val147=)
-/. - c.665A>G r.(?) p.(Asn222Ser)
-/. - c.665A>G r.(?) p.(Asn222Ser)
-?/. - c.675T>C r.(?) p.(Asp225=)
-/. - c.803G>A r.(?) p.(Arg268Gln)
-/. - c.803G>A r.(?) p.(Arg268Gln)
?/. - c.803G>A r.(?) p.(Arg268Gln)
-/. - c.862T>C r.(?) p.(Leu288=)
-/. - c.1039-5T>C r.spl? p.?
-?/. - c.1039-5T>C r.spl? p.?
-?/. - c.1117T>C r.(?) p.(Ser373Pro)
?/. - c.1316T>C r.(?) p.(Ile439Thr)
-/. - c.1316T>C r.(?) p.(Ile439Thr)
-/. - c.1349+1025_1349+1028del r.(=) p.(=)
-/. - c.1349+1027_1349+1028del r.(=) p.(=)
-?/. - c.1349+1027_1349+1028del r.(=) p.(=)
-/. - c.1349+1027_1349+1028dup r.(=) p.(=)
-?/. - c.1349+1028del r.(=) p.(=)
-/. - c.1349+1028del r.(=) p.(=)
-/. - c.1349+1028dup r.(=) p.(=)
-/. - c.1349+1085A>G r.(=) p.(=)
-?/. - c.1401G>T r.(?) p.(Leu467=)
-/. - c.*20A>G r.(=) p.(=)
-/. - c.*20A>G r.(=) p.(=)
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