Human (GRCh37.p13)
Description

carbamoyl-phosphate synthase 1, mitochondrial [Source:HGNC Symbol;Acc:2323]

Gene Synonyms

CPSASE1, PHN

Location

Chromosome 2: 211,342,406-211,543,831 forward strand.

GRCh37:CM000664.1

About this gene

This gene has 11 transcripts (splice variants), 1 paralogue and is associated with 3 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000233072.5CPS1-00158211500aaENSP00000233072.5
 
Protein coding
CCDS2393B7ZAW0 C9JTA4 P31327
Q5R207
NM_001875.4GENCODE basic
ENST00000430249.2CPS1-01156981506aaENSP00000402608.2
 
Protein coding
CCDS46505B7ZAW0 C9JTA4 E7EWJ3
P31327 Q5R207
NM_001122633.2GENCODE basic
ENST00000451903.2CPS1-00347701049aaENSP00000406136.2
 
Protein coding
CCDS46506B7ZAW0 P31327 NM_001122634.2GENCODE basic
ENST00000417946.1CPS1-002699121aaENSP00000388496.1
 
Protein coding
C9JTA4 -CDS 3' incomplete
ENST00000518043.1CPS1-010585121aaENSP00000430697.1
 
Protein coding
C9JTA4 -CDS 3' incomplete
ENST00000523702.1CPS1-009546157aaENSP00000430644.1
 
Protein coding
C9JTA4 E7EWJ3 -CDS 3' incomplete
ENST00000497121.1CPS1-007585No protein-
 
Processed transcript
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ENST00000479988.1CPS1-0044811No protein-
 
Retained intron
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ENST00000470791.1CPS1-008501No protein-
 
Retained intron
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ENST00000497163.1CPS1-005443No protein-
 
Retained intron
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ENST00000467353.1CPS1-006323No protein-
 
Retained intron
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