VitiVar - Compendium of genes and variants associated with vitiligo
carbamoyl-phosphate synthase 1, mitochondrial (CPS1)
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View gene CPS1
General information
Gene symbol
CPS1
Gene name
carbamoyl-phosphate synthase 1, mitochondrial
Chromosome
2
Chromosomal band
p
Gene Alias
Imprinted
Unknown
Genomic reference
LRG_336
Transcript reference
NM_001122633.2
Study Type
Expression
Expression Status[Source: Literature]
Associated with DOWNREGULATION in Vitiligo
Strömberg et al.(2008)
Expression Summary[Source: Literature]
Sample : SKIN || Population : CAUCASIAN/EUROPEAN || Gene name used in study : CPS1
Total number of public variants reported
0
Unique public DNA variants reported
0
Individuals with public variants
0
Hidden variants
0
Curators (1)
IGIB
Date created
September 03, 2015
Date last updated
September 03, 2015
Version
CPS1:150903
Links to other resources
Gene Expression Meta-Analysis
http://vitivar.igib.res.in/gestatus.php?id=CPS1
HGNC
2323
Entrez Gene
1373
PubMed articles
CPS1
OMIM - Gene
608307
Active transcripts
Legend
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ID
Chr
Name
NCBI ID
NCBI Protein ID
Variants
00306
2
transcript variant 1
NM_001122633.2
NP_001116105.1
0
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