Transcript #00008417

Transcript name transcript variant 1
Gene name GCNT2 (glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group))
Chromosome 6
Transcript - NCBI ID NM_145649.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_663624.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

55 entries on 1 page. Showing entries 1 - 55.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.74A>G r.(?) p.(Asn25Ser)
-/? 4 c.505G>A r.(?) p.(Ala169Thr)
+/? 3 c.505G>A r.(?) p.(Ala169Thr)
+/? 3 c.505G>A r.(?) p.(Ala169Thr)
+/? 3 c.505G>A r.(?) p.(Ala169Thr)
+/? 3 c.505G>A r.(?) p.(Ala169Thr)
+/? 3 c.505G>A r.(?) p.(Ala169Thr)
+/? 3 c.505G>A r.(?) p.(Ala169Thr)
+/? 3 c.505G>A r.(?) p.(Ala169Thr)
+/? 3 c.505G>A r.(?) p.Ala169Thr
?/. - c.652G>A r.(?) p.(Gly218Arg)
+/? 3 c.683G>A r.(?) p.(Arg228Gln)
+/? 3 c.683G>A r.(?) p.Arg228Gln
-?/. - c.699C>T r.(?) p.(His233=)
-/? 3 c.816C>G r.(?) p.(Asp272Glu)
-/? 3 c.816C>G r.(?) p.(Asp272Glu)
-/? 3 c.816C>G r.(?) p.Asp272Glu
-?/. - c.925+26841C>G r.(=) p.(=)
?/. - c.925+26917G>A r.(=) p.(=)
-?/. - c.925+26983T>C r.(=) p.(=)
?/. - c.925+27063A>G r.(=) p.(=)
-/. - c.925+27104A>G r.(=) p.(=)
+?/. - c.925+27139C>A r.(=) p.(=)
?/. - c.925+27345C>G r.(=) p.(=)
?/? 3i c.926-35119T>A r.(=) p.(=)
?/? 3i c.926-35119T>A r.(=) p.(=)
?/? 3i c.926-35119T>A - p.(=)
-/. - c.926-34827G>A r.(=) p.(=)
-/. - c.926-34546C>G r.(=) p.(=)
-?/. - c.926-34546C>G r.(=) p.(=)
-/. - c.926-34528A>G r.(=) p.(=)
+/? 4 c.983G>A r.(?) p.(Trp328*)
+/? 4 c.983G>A r.(?) p.(Trp328*)
+/? 4 c.983G>A r.(?) p.(Trp328*)
+/? 4 c.983G>A r.(?) p.(Trp328*)
+/? 4 c.983G>A r.(?) p.(Trp328*)
+/? 4 c.983G>A r.(?) p.(Trp328*)
+/? 4 c.983G>A r.(?) p.(Trp328*)
+/? 4 c.983G>A r.(?) p.(Trp328*)
?/? 4 c.1006G>A r.(?) p.(Gly336Arg)
?/? 4 c.1006G>A - p.(Gly336Arg)
?/? - c.1049G>A r.(?) p.(Gly350Glu)
?/? - c.1049G>A r.(?) p.(Gly350Glu)
?/? - c.1049G>A r.(?) p.(Gly350Glu)
?/? - c.1049G>A r.(?) p.(Gly350Glu)
?/? - c.1049G>A r.(?) p.(Gly350Glu)
?/? - c.1049G>A r.(?) p.(Gly350Glu)
+/? 5 c.1049G>A r.1049g>a p.Gly350Glu
?/? 5 c.1049G>A r.(?) p.(Gly350Glu)
?/? 5 c.1049G>A - p.(Gly350Glu)
?/. - c.1058A>T r.(?) p.(Asp353Val)
?/? - c.1154G>A r.(?) p.(Arg385His)
?/? - c.1154G>A r.(?) p.(Arg385His)
?/? - c.1154G>A r.(?) p.(Arg385His)
+/? 5 c.1154G>A r.1154g>a p.Arg385His
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