Transcript #00000017

Transcript name UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)
Gene name GALNT12 (polypeptide N-acetylgalactosaminyltransferase 12)
Chromosome 9
Transcript - NCBI ID NM_024642.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_078918.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

36 entries on 1 page. Showing entries 1 - 36.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? 1 c.237C>T r.(?) p.(=)
+?/. - c.303C>G r.(?) p.(His101Gln)
?/? 1 c.356A>T r.(?) p.(Glu119Val)
?/? 2 c.399T>C r.(?) p.(=)
+*/. - c.425T>C r.(?) p.(Ile142Thr)
-?/. - c.715G>C r.(?) p.(Glu239Gln)
?/. - c.732-8G>T r.(=) p.(=)
?/? 4 c.781G>A r.(?) p.(Asp261Asn)
?/? 4 c.781G>A r.(?) p.(Asp261Asn)
?/? 4 c.781G>A r.(?) p.(Asp261Asn)
-?/. - c.857C>T r.(?) p.(Thr286Met)
+?/. - c.868G>T r.(?) p.(Val290Phe)
+?/. - c.889C>T r.(?) p.(Arg297Trp)
-?/. - c.907G>A r.(?) p.(Asp303Asn)
+/? 4 c.907G>A r.(?) p.(Asp303Asn)
+/? 4 c.907G>A r.(?) p.(Asp303Asn)
+/? 4 c.907G>A r.(?) p.(Asp303Asn)
+/? 4 c.907G>A r.(?) p.(Asp303Asn)
+/? 4 c.907G>A r.(?) p.(Asp303Asn)
+/? 4 c.907G>A r.(?) p.(Asp303Asn)
+/? 4 c.907G>A r.(?) p.(Asp303Asn)
+/? 4 c.907G>A r.(?) p.(Asp303Asn)
+/? 4 c.907G>A r.(?) p.(Asp303Asn)
+/? 4 c.907G>A r.(?) p.(Asp303Asn)
-?/? 5i c.1036-4G>A r.(?) p.(=)
+/? 6 c.1187A>G r.(?) p.(Tyr396Cys)
?/? 8 c.1392C>T r.(?) p.(=)
?/? 9 c.1497C>T r.(?) p.(=)
?/? 9 c.1497C>T r.(?) p.(=)
?/? 9i c.1605+4G>A r.spl? p.?
?/? 10 c.1707G>C r.(?) p.(=)
?/? 10 c.1734G>A r.(?) p.(=)
?/? 10 c.*171A>G r.(?) p.(=)
?/? 10 c.*421G>A r.(?) p.(=)
?/? 10i c.*499T>A r.(?) p.(=)
?/? 10i c.*547dup r.(?) p.(=)
Legend