ASS1 gene homepage

General information
Gene symbol ASS1
Gene name argininosuccinate synthase 1
Chromosome 9
Chromosomal band q34.1
Imprinted Unknown
Genomic reference NG_011542.1
Transcript reference NM_000050.4
Exon/intron information NM_000050.4 exon/intron table
Associated with diseases CTLN-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 203
Unique public DNA variants reported 103
Individuals with public variants 154
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 20, 2009
Date last updated October 12, 2018
Version ASS1:181012

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_000050.4.
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/ASS1
External URL Orphanet
HGNC 758
Entrez Gene 445
PubMed articles ASS1
OMIM - Gene 603470
OMIM - Diseases CTLN-1 (citrullinemia, type I (CTLN-1))
HGMD ASS1
GeneCards ASS1
GeneTests ASS1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000006 9 argininosuccinate synthase 1, transcript variant 1 NM_000050.4 NP_000041.2 203


Copyright & disclaimer
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