View ASS1 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol ASS1
Gene name argininosuccinate synthase 1
Chromosome 9
Chromosomal band q34.1
Imprinted Unknown
Genomic reference NC_000009.11
Transcript reference NM_000050.4, NM_054012.3
Associated with diseases -
Citation reference(s) -
Curators (0) -
Total number of public variants reported 15
Unique public DNA variants reported 15
Individuals with public variants 0
Hidden variants 0
Notes MSeqDR-LSDB
Date created November 12, 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 758
Entrez Gene 445
PubMed articles ASS1
OMIM - Gene 603470
HGMD ASS1
GeneCards ASS1
GeneTests ASS1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000477 9 transcript variant 1 NM_000050.4 NP_000041.2 15
00000478 9 transcript variant 2 NM_054012.3 NP_446464.1 15


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Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium