CPS1 gene homepage

General information
Gene symbol CPS1
Gene name carbamoyl-phosphate synthase 1, mitochondrial
Chromosome 2
Chromosomal band p
Imprinted Unknown
Genomic reference LRG_336
Transcript reference NM_001122633.2
Exon/intron information NM_001122633.2 exon/intron table
Associated with diseases PHN, deficiency, carbamoylphosphate synthetase I
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 407
Unique public DNA variants reported 278
Individuals with public variants 329
Hidden variants 14
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created March 20, 2009
Date last updated August 17, 2019
Version CPS1:190817

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_001122633.2.
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 https://www.LOVD.nl/CPS1
External URL Orphanet
HGNC 2323
Entrez Gene 1373
PubMed articles CPS1
OMIM - Gene 608307
OMIM - Diseases PHN (hypertension, pulmonary, neonatal, susceptibility to (PHN))
deficiency, carbamoylphosphate synthetase I
GeneCards CPS1
GeneTests CPS1

Active transcripts




NCBI ID     

NCBI Protein ID     

00005620 2 transcript variant 1 NM_001122633.2 NP_001116105.1 407

Copyright & disclaimer
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