Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
asparagine synthetase deficiency
|
| gptkbp:encodes |
asparagine synthetase
|
| gptkbp:Entrez_Gene_ID |
440
ENSG00000070669 |
| gptkbp:fullName |
asparagine synthetase (glutamine-hydrolyzing)
|
| gptkbp:function |
catalyzes the synthesis of asparagine from aspartate
involved in amino acid biosynthesis |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
gptkb:HGNC:746
|
| gptkbp:locatedOnChromosome |
7
|
| gptkbp:mutationAssociatedWith |
microcephaly
progressive encephalopathy |
| gptkbp:OMIM |
108370
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Asns
|
| gptkbp:UniProtID |
P08243
|
| gptkbp:bfsParent |
gptkb:NASDAQ:_ASNS
|
| gptkbp:bfsLayer |
6
|
| https://www.w3.org/2000/01/rdf-schema#label |
ASNS
|