Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
Ensembl gene ID
|
| gptkbp:associatedWith |
gptkb:Citrin_deficiency
Adult-onset type II citrullinemia Neonatal intrahepatic cholestasis caused by citrin deficiency |
| gptkbp:encodes |
gptkb:SLC25A13
|
| gptkbp:Entrez_Gene_ID |
10165
|
| gptkbp:gene |
gptkb:SLC25A13
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:hasRefSeqID |
NM_014251
|
| gptkbp:hasTranscript |
ENST00000456313
ENST00000475513 ENST00000356839 ENST00000418362 |
| gptkbp:HGNC_ID |
HGNC:10987
|
| https://www.w3.org/2000/01/rdf-schema#label |
ENSG00000188906
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_7
|
| gptkbp:OMIM |
603859
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:startPoint |
95819997
95881213 |
| gptkbp:strand |
reverse
|
| gptkbp:UniProtID |
Q9UJS0
|
| gptkbp:bfsParent |
gptkb:LRRK2
|
| gptkbp:bfsLayer |
7
|