The CPS1 gene homepage

General information
Gene symbol CPS1
Gene name carbamoyl-phosphate synthase 1
Chromosome 2
Chromosomal band q34
Imprinted Unknown
Genomic reference LRG_336
Transcript reference NM_001122633.2, NM_001875.4
Associated with diseases CPS1D
Citation reference(s) -
Curators (1) MyHVP
Total number of public variants reported 10
Unique public DNA variants reported 8
Individuals with public variants 2
Hidden variants 0
Download all this gene's data Download all data
Date created December 09, 2020
Date last updated December 14, 2020
Version CPS1:201214

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
HGNC 2323
Entrez Gene 1373
PubMed articles CPS1
OMIM - Gene 608307
HGMD CPS1
GeneCards CPS1
GeneTests CPS1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000060 2 transcript variant 2 NM_001875.4 NP_001866.2 10
00000059 2 transcript variant 1 NM_001122633.2 NP_001116105.1 0


Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.