Transcript #00025656 (NM_021971.2, GMPPB gene)

Transcript name transcript variant 2
Gene name GMPPB (GDP-mannose pyrophosphorylase B)
Chromosome 3
Transcript - NCBI ID NM_021971.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_068806.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

143 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.53C>G r.(?) p.(Thr18Arg)
+/. - c.64C>T r.(?) p.(Pro22Ser)
+/. - c.64C>T r.(?) p.Pro22Ser
+?/. - c.79G>C r.(?) p.(Asp27His)
+?/. - c.79G>C r.(?) p.(Asp27His)
+?/. - c.79G>C r.(?) p.(Asp27His)
+/. - c.79G>C r.(?) p.(Asp27His)
+?/. - c.79G>C r.(?) p.(Asp27His)
+/. - c.79G>C r.(?) p.(Asp27His)
?/. - c.79G>C r.(?) p.(Asp27His)
-?/. - c.79G>C r.(?) p.Asp27His
+/. - c.79G>C r.(?) p.(Asp27His)
+?/. - c.79G>C r.(?) p.(Asp27His)
+/. - c.79G>C r.(?) p.(Asp27His)
+/. - c.79G>C r.(?) p.(Asp27His)
+/. - c.79G>C r.(?) p.(Asp27His)
+/. - c.79G>C r.(?) p.(Asp27His)
+/. - c.79G>C r.(?) p.(Asp27His)
+/. - c.79G>C r.(?) p.(Asp27His)
+?/. - c.79G>C r.(?) p.(Asp27His)
+?/. - c.79G>C r.(?) p.(Asp27His)
+?/. - c.94C>T r.(?) p.(Pro32Ser)
?/. - c.95C>A r.(?) p.(Pro32His)
+/. - c.95C>T r.(?) p.(Pro32Leu)
+/. - c.95C>T r.(?) p.(Pro32Leu)
+/. - c.95C>T r.(?) p.(Pro32Leu)
+/. - c.95C>T r.(?) p.Pro32Leu
+/. - c.95C>T r.(?) p.(Pro32Leu)
-?/. - c.129+7C>A r.(=) p.(=)
?/. - c.187G>A r.(?) p.(Glu63Lys)
+?/. - c.190del r.(?) p.(Met64*)
+?/. - c.190del r.(?) p.(Met64*)
-?/. - c.211-15del r.(=) p.(=)
+/. - c.220C>T r.(?) p.(Arg74*)
+/. - c.220C>T r.(?) p.(Arg74*)
+/. - c.291_294del r.(?) p.(Ser98ArgfsTer13)
?/. - c.291_294del r.(?) p.(Ser98ArgfsTer13)
?/. - c.299C>T r.(?) p.(Thr100Ile)
-?/. - c.324C>T r.(?) p.(Asn108=)
-?/. - c.330C>T r.(?) p.(Asp110=)
+/. - c.331G>A r.(?) p.(Val111Met)
?/. - c.332T>C r.(?) p.(Val111Ala)
+?/. - c.343T>C r.(?) p.(Phe115Leu)
-?/. - c.376C>G r.(?) p.(His126Asp)
-?/. - c.376C>G r.(?) p.(His126Asp)
+?/. - c.391G>T r.(?) p.(Gly131Cys)
+?/. - c.391G>T r.(?) p.(Gly131Cys)
+/. - c.391G>T r.(?) p.(Gly131Cys)
+?/. - c.395C>G r.(?) p.(Ser132Cys)
+/. - c.402+1G>A r.spl p.?
+/. - c.432C>A r.(?) p.(Tyr144*)
?/. - c.506A>G r.(?) p.(Asn169Ser)
?/. - c.516C>G r.(?) p.(Asn172Lys)
-/. - c.551= r.(=) p.(Arg184=)
+?/. - c.553C>T r.(?) p.(Arg185Cys)
+/. - c.553C>T r.(?) p.(Arg185Cys)
+/. - c.553C>T r.(?) p.(Arg185Cys)
+/. - c.553C>T r.(?) p.(Arg185Cys)
+/. - c.553C>T r.(?) p.(Arg185Cys)
-?/. - c.553C>T r.(?) p.Arg185Cys
+/. - c.553C>T r.(?) p.(Arg185Cys)
+/. - c.553C>T r.(?) p.(Arg185Cys)
+/. - c.553C>T r.(?) p.(Arg185Cys)
-?/. - c.561+18G>T r.(=) p.(=)
?/. - c.586G>C r.(?) p.(Glu196Gln)
+/. - c.589G>T r.(?) p.(Val197Phe)
+?/. - c.656T>C r.(?) p.(Ile219Thr)
+?/. - c.656T>C r.(?) p.(Ile219Thr)
+/. - c.656T>C r.(?) p.(Ile219Thr)
+/. - c.714G>T r.(?) p.(Gln238His)
?/. - c.714G>T r.(?) p.(Gln238His)
+?/. - c.721C>T r.(?) p.(Pro241Ser)
+?/. - c.760G>A r.(?) p.(Val254Met)
+/. - c.787G>A r.(?) p.(Gly263Ser)
+?/. - c.787G>A r.(?) p.(Gly263Ser)
+?/. - c.787G>A r.(?) p.(Gly263Ser)
+/. - c.790C>T r.(?) p.(Gln264*)
+?/. - c.848G>C r.(?) p.(Gly283Ala)
+/. - c.851T>C r.(?) p.(Val284Ala)
+?/. - c.859C>T r.(?) p.(Arg287Trp)
+?/. - c.859C>T r.(?) p.(Arg287Trp)
+/. - c.859C>T r.(?) p.(Arg287Trp)
+?/. - c.859C>T r.(?) p.(Arg287Trp)
+?/. - c.859C>T r.(?) p.(Arg287Trp)
+/. - c.860G>A r.(?) p.Arg287Gln
+?/. - c.860G>A r.(?) p.(Arg287Gln)
+/. - c.860G>A r.(?) p.(Arg287Gln)
+/. - c.860G>A r.(?) p.(Arg287Gln)
+?/. - c.860G>A r.(?) p.(Arg287Gln)
+/. - c.860G>A r.(?) p.(Arg287Gln)
+/. - c.860G>A r.(?) p.(Arg287Gln)
+/. - c.860G>A r.(?) p.(Arg287Gln)
+/. - c.860G>A r.(?) p.(Arg287Gln)
+/. - c.860G>T r.(?) p.(Arg287Leu)
-?/. - c.863G>A r.(?) p.(Arg288Gln)
+/. - c.877C>T r.(?) p.(Arg293Trp)
-?/. - c.881A>G r.(?) p.(Asp294Gly)
-?/. - c.951+10T>G r.(=) p.(=)
-?/. - c.951+14C>G r.(=) p.(=)
-?/. - c.951+14_951+15del r.(=) p.(=)
Legend   How to query   « First ‹ Prev     1 2     Next › Last »