COG6 gene homepage

General information
Gene symbol COG6
Gene name component of oligomeric golgi complex 6
Chromosome 13
Chromosomal band q13.2
Imprinted Unknown
Genomic reference NG_028352.1
Transcript reference NM_001145079.1
Exon/intron information NM_001145079.1 exon/intron table
Associated with diseases CDG-2L, Shaheen syndrome
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Gert Matthijs
Total number of public variants reported 18
Unique public DNA variants reported 14
Individuals with public variants 0
Hidden variants 2
Download all this gene's data Download all data
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created September 05, 2012
Date last updated September 15, 2020
Version COG6:200915

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001145079.1.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 18621
Entrez Gene 57511
PubMed articles COG6
OMIM - Gene 606977
OMIM - Diseases CDG-2L (glycosylation, congenital disorder of, type IIl (CDG-2L))
Shaheen syndrome
GeneCards COG6
GeneTests COG6

Active transcripts




NCBI ID     

NCBI Protein ID     

00005451 13 transcript variant 2 NM_001145079.1 NP_001138551.1 18

Copyright & disclaimer
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