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.

3 entries on 1 page. Showing entries 1 - 3.
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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     
-/? 3 c.816C>G - r.(?) p.(Asp272Glu) g.10529960C>G g.10529727C>G 816G>C (E272D) - GCNT2_000007 - PubMed: Inaba 2003 - - Germline yes - - 0 - Johan den Dunnen
-/? 3 c.816C>G - r.(?) p.(Asp272Glu) g.10529960C>G g.10529727C>G 816G>C (E272D) - GCNT2_000007 - PubMed: Inaba 2003 - - Unknown - 2/8 chromosomes - 0 - Johan den Dunnen
-/? 3 c.816C>G - - p.Asp272Glu g.10529960C>G g.10529727C>G - - GCNT2_000007 expression cloning CHO cells, normal I-antigen expression PubMed: Inaba 2003 - - In vitro (cloned) - - - 0 - Johan den Dunnen
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