CAD gene homepage

General information
Gene symbol CAD
Gene name carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
Chromosome 2
Chromosomal band p22-p21
Imprinted Unknown
Genomic reference NC_000002.11
Transcript reference NM_004341.3
Associated with diseases EIEE-50
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 22
Unique public DNA variants reported 22
Individuals with public variants 0
Hidden variants 1
Date created May 03, 2013

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 1424
Entrez Gene 790
PubMed articles CAD
OMIM - Gene 114010
OMIM - Diseases EIEE-50 (encephalopathy, epileptic, early infantile,, type 50 (EIEE-50))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00004268 2 carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase NM_004341.3 NP_004332.2 22


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