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General information
Gene symbol CUBN
Gene name cubilin (intrinsic factor-cobalamin receptor)
Chromosome 10
Chromosomal band p12
Imprinted Unknown
Genomic reference NG_008967.1
Transcript reference NM_001081.3
Exon/intron information NM_001081.3
Associated with diseases MGA-1
Citation reference(s) Aminoff et al. 1999, Tanner et al. 2003
Refseq URL Genomic reference sequence
Curators (1) Juha Muilu
Total number of public variants reported 36
Unique public DNA variants reported 34
Individuals with public variants 1
Hidden variants 0
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.

This database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66).
Date created August 30, 2012
Date last updated May 05, 2017
Version CUBN:170505

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
External URL Finnish Disease Database
See also mutation database for AMN gene
HGNC 2548
Entrez Gene 8029
PubMed articles CUBN
OMIM - Gene 602997
OMIM - Diseases MGA-1 (anemia, megaloblastic, type 1 (MGA-1))
HGMD CUBN
GeneCards CUBN
GeneTests CUBN


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000280 10 cubilin (intrinsic factor-cobalamin receptor) NM_001081.3 NP_001072.2 36


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2012-2017. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

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