SEC23B gene homepage

Euroglycanet logoCongenital Disorders of Glycosylation (CDG)
Some variants in this database are copied from the CDG database at the Euroglycanet site.
General information
Gene symbol SEC23B
Gene name Sec23 homolog B (S. cerevisiae)
Chromosome 20
Chromosomal band p11.23
Imprinted Unknown
Genomic reference NG_016281.1
Transcript reference NM_032985.4
Exon/intron information NM_032985.4 exon/intron table
Associated with diseases CDAN-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Gert Matthijs
Total number of public variants reported 4
Unique public DNA variants reported 4
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created September 05, 2012

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_032985.4.
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 http://www.LOVD.nl/SEC23B
External URL Congenital Disorder of Glycosylation pages
HGNC 10702
Entrez Gene 10483
PubMed articles SEC23B
OMIM - Gene 610512
OMIM - Diseases CDAN-2 (anemia, dyserythropoietic, congenital, type II (CDAN-2))
HGMD SEC23B
GeneCards SEC23B
GeneTests SEC23B


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024028 20 transcript variant 2 NM_032985.4 NP_116780.1 4


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