Transcript #00024082 (NM_001128227.2, GNE gene)

Transcript name transcript variant 1
Gene name GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase)
Chromosome 9
Transcript - NCBI ID NM_001128227.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001121699.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

645 entries on 7 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. 7 c.? r.(?) p.?
+/. _1_3i c.-35077_710-2769del r.0 p.0
+/. _1_8i c.(?_-112)_(1726+1_1727-1)del r.0? p.0?
+/. _1_8i c.(?_-112)_(1726+1_1727-1)del r.0? p.0?
?/. 1 c.-65C>A r.(=) p.(=)
?/. 5' UTR c.-10G>A r.(?) p.(=)
?/. 1 c.-4C>T r.(=) p.(=)
?/. 5' UTR c.-4C>T r.(?) p.(=)
?/. 5' UTR c.-3G>A r.(?) p.(=)
?/. 1 c.43G>C r.(?) p.(Gly15Arg)
+/. 1i c.51+7981_52-8189del r.? p.?
+/. 1i c.51+9423_52-8182del r.0 p.0
+/. 1i c.51+9423_52-8182del r.0 p.0
+/. 1i c.51+10408_52-10008del r.0 p.0
+/. 1i c.52-12264_52-8148del r.0? p.0?
+/. 1i c.52-11451_52-447del r.0? p.0?
+/. 1i c.52-11451_52-447del r.0 p.0
+/. 1i c.52-11451_52-447del r.0 p.0
+/. 1i c.52-11451_52-447del r.0 p.0
+/. 1i_5i c.52-8128_1075+531del r.0 p.0
+/. 1i_2i c.52-4733_257+1241del r.0? p.0?
+/. 1i_3i c.52-3652_709+469dup r.52_709dup p.?
+/. 2 c.79C>T r.(?) p.(Arg27*)
+/. 2 c.97G>T r.(?) p.(Glu33*)
+/. 2 c.98A>G r.(?) p.(Glu33Gly)
+/. 2 c.98A>G r.(?) p.(Glu33Gly)
+/. 2 c.115C>T r.(?) p.(Arg39*)
?/. 2 c.116G>A r.(?) p.(Arg39Gln)
+/. 2 c.124C>T r.(?) p.(Arg42Trp)
+/. - c.131G>C r.(?) p.(Cys44Ser)
+/. 2 c.131G>C r.(?) p.(Cys44Ser)
+/. 2 c.131G>C r.(?) p.(Cys44Ser)
+/. 2 c.131G>C r.(?) p.(Cys44Ser)
+/. 2 c.131G>C r.131g>c p.Cys44Ser
+?/. - c.131G>C r.(?) p.(Cys44Ser)
+/. 2 c.131G>C r.131g>c p.Cys44Ser
+?/. - c.131G>C r.(?) p.(Cys44Ser)
+/. 2 c.131G>C r.(?) p.(Cys44Ser)
+/. 2 c.131G>C r.(?) p.(Cys44Ser)
+?/. - c.131G>C r.(?) p.(Cys44Ser)
+?/. 2 c.146del r.(?) p.(Asn49Thrfs*33)
+/. 2 c.172C>T r.(?) p.(Pro58Ser)
+/. 2 c.172C>T r.(?) p.(Pro58Ser)
+/. 2 c.173C>T r.(?) p.(Pro58Leu)
+?/. - c.173C>T r.(?) p.(Pro58Leu)
+/. 2 c.179T>C r.(?) p.(Met60Thr)
+?/. - c.179T>C r.(?) p.(Met60Thr)
+/. 2 c.188_197dup r.(?) p.(Glu66Aspfs*2)
+/. 2 c.200C>T r.(?) p.(Pro67Leu)
+/. 2i c.257+1G>A r.spl p.?
+/. 3 c.268C>T r.(?) p.(Arg90*)
+?/. 3 c.271A>G r.(?) p.(Met91Val)
?/. 3 c.300C>T r.(?) p.(=)
?/. 2 c.300C>T r.(=) p.(=)
?/. 3 c.304A>T r.(?) p.(Arg102Trp)
?/. 3 c.304A>T r.(?) p.(Arg102Trp)
?/. 3 c.304A>T r.(?) p.(Arg102Trp)
+/. 3 c.304A>T r.(?) p.(Arg102Trp)
+/. 3 c.304A>T r.(?) p.(Arg102Trp)
+/. - c.350A>T r.(?) p.(Glu117Val)
+/. 3 c.358G>C r.(?) p.(Gly120Arg)
?/. 2 c.390T>G r.(=) p.(=)
?/. 2 c.390T>G r.(=) p.(=)
?/. - c.395G>A r.(?) p.(Arg132His)
?/. 3 c.398T>C r.(?) p.(Leu133Pro)
?/. 3 c.398T>C r.(?) p.(Leu133Pro)
?/. 3 c.410T>C r.(?) p.(Ile137Thr)
?/. 3 c.422A>G r.(?) p.(His141Arg)
+?/. 3 c.478C>T r.(?) p.(Arg160*)
+?/. 3 c.478C>T r.(?) p.(Arg160*)
+/. 3 c.479G>A r.(?) p.(Arg160Gln)
+/. 3 c.479G>A r.479g>a p.Arg160Gln
+/. 3 c.489C>G r.(?) p.(His163Gln)
?/. - c.491T>C r.(?) p.(Ile164Thr)
+/. 3 c.497G>T r.(?) p.(Gly166Val)
+?/. - c.518T>C r.(?) p.(Ile173Thr)
+/. 3 c.518T>C r.(?) p.(Ile173Thr)
?/. 3 c.548A>C r.(?) p.(Lys183Thr)
+?/. 3 c.559T>C r.(?) p.(Tyr187His)
?/. 3 c.574A>G r.(?) p.(Thr192Ala)
+?/. - c.577C>T r.(?) p.(Arg193Cys)
+/. 3 c.577C>T r.(?) p.(Arg193Cys)
+/. 3 c.577C>T r.(?) p.(Arg193Cys)
+/. 3 c.577C>T r.(?) p.(Arg193Cys)
+/. 3 c.577C>T r.(?) p.(Arg193Cys)
?/. 3 c.580A>G r.(?) p.(Ser194Gly)
+/. 3 c.604A>G r.(?) p.(Met202Val)
+/. 3 c.604A>G r.(?) p.(Met202Val)
+/. 3 c.620A>T r.620a>u p.Asp207Val
+/. 3 c.620A>T r.(?) p.(Asp207Val)
+/. 3 c.620A>T r.(?) p.(Asp207Val)
+/. 3 c.620A>T r.620a>u p.Asp207Val
+/. 3 c.620A>T r.620a>u p.Asp207Val
+/. 3 c.620A>T r.620a>u p.Asp207Val
+/. 3 c.620A>T r.(?) p.(Asp207Val)
+/. 3 c.620A>T r.620a>u p.Asp207Val
+/. 3 c.620A>T r.(?) p.(Asp207Val)
+/. 3 c.620A>T r.(?) p.(Asp207Val)
+/. 3 c.620A>T r.620a>u p.Asp207Val
+/. 3 c.620A>T r.(?) p.(Asp207Val)
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