All transcript variants in gene GCNT2

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/? - c.1049G>A - r.(?) p.(Gly350Glu) g.10626680G>A g.10626447G>A 1043G>A (Gly348Glu) - GCNT2_000001 - PubMed: Yu 2001, OMIM:var0001 - rs56141211 Germline yes - - 0 - Johan den Dunnen
?/? - c.1049G>A - r.(?) p.(Gly350Glu) g.10626680G>A g.10626447G>A 1043G>A (Gly348Glu) - GCNT2_000001 - PubMed: Yu 2001, OMIM:var0001 - - Germline yes - - 0 - Johan den Dunnen
?/? - c.1049G>A - r.(?) p.(Gly350Glu) g.10626680G>A g.10626447G>A 1043G>A (Gly348Glu) - GCNT2_000001 - PubMed: Yu 2001, OMIM:var0001 - - Germline yes - - 0 - Johan den Dunnen
?/? - c.1049G>A - r.(?) p.(Gly350Glu) g.10626680G>A g.10626447G>A 1043G>A (Gly348Glu) - GCNT2_000001 - PubMed: Yu 2001, OMIM:var0001 - - Germline yes - - 0 - Johan den Dunnen
?/? - c.1049G>A - r.(?) p.(Gly350Glu) g.10626680G>A g.10626447G>A 1043G>A (Gly348Glu) - GCNT2_000001 - PubMed: Yu 2001, OMIM:var0001 - - Germline yes - - 0 - Johan den Dunnen
?/? - c.1049G>A - r.(?) p.(Gly350Glu) g.10626680G>A g.10626447G>A 1043G>A (Gly348Glu) - GCNT2_000001 - PubMed: Yu 2001, OMIM:var0001 - - Germline yes - - 0 - Johan den Dunnen
+/? 5 c.1049G>A - r.1049g>a p.Gly350Glu g.10626680G>A g.10626447G>A - - GCNT2_000001 expression cloning COS7-cells, no GlcNAc-transferase enzyme activity PubMed: Yu 2001, PubMed: Yu 2003 - - In vitro (cloned) - - - 0 - Johan den Dunnen
?/? 5 c.1049G>A - r.(?) p.(Gly350Glu) g.10626680G>A g.10626447G>A - - GCNT2_000001 - PubMed: Inaba 2003 - - Germline yes - - 0 - Johan den Dunnen
?/? 5 c.1049G>A - r.(?) p.(Gly350Glu) g.10626680G>A g.10626447G>A - - GCNT2_000001 expression cloning CHO cells, no I-antigen expression PubMed: Inaba 2003 - - In vitro (cloned) - - - 0 - Johan den Dunnen
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