The UPB1 gene homepage

General information
Gene symbol UPB1
Gene name ureidopropionase, beta
Chromosome 22
Chromosomal band q11.2
Imprinted Unknown
Genomic reference NG_012858.1
Transcript reference NM_016327.2, XM_005261633.2
Associated with diseases ID, beta-ureidopropionase deficiency
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 42
Unique public DNA variants reported 6
Individuals with public variants 31
Hidden variants 8
Date created November 30, -0001
Date last updated September 28, 2016
Version UPB1:160928

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 List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:16297
Entrez Gene 51733
PubMed articles UPB1
OMIM - Gene 606673
OMIM - Diseases beta-ureidopropionase deficiency


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00015024 22 ureidopropionase, beta NM_016327.2 NP_057411.1 42
00042429 22 transcript variant X1 XM_005261633.2 XP_005261690.1 -