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Gene : ASS1 Homo sapiens

Name  ? argininosuccinate synthase 1 Cytological Location  9q34.11
Brief Description  argininosuccinate synthase 1
Description  The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]
  • synonyms:
  • CTLN1,
  • ASS1,
  • argininosuccinate synthetase,
  • OTTHUMG00000020806,
  • ASS,
  • CTLN1,
  • X01630,
  • ASS,
  • NM_000050,
  • uc004bzn.4,
  • HGNC:758
  • identifiers:
  • 445,
  • ENSG00000130707,
  • ASS1

Genome feature

Region: gene ? Length: 56568  
Location: 9:130444707-130501274 Cyto location: 9q34.11

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Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


Homologue Displayer


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Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



183 SNPs

5 Cross References

18 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results