Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:Ensembl_gene_ID
|
| gptkbp:associatedWith |
gptkb:Epilepsy
Childhood absence epilepsy Juvenile myoclonic epilepsy |
| gptkbp:encodes |
GABRA1
|
| gptkbp:Entrez_Gene_ID |
2554
ENSP00000221311 |
| gptkbp:gene |
GABRA1
gamma-aminobutyric acid type A receptor subunit alpha1 |
| gptkbp:geneType |
protein-coding
|
| gptkbp:hasRefSeqID |
NM_000806
|
| gptkbp:hasTranscript |
ENST00000221311
|
| gptkbp:HGNC_ID |
HGNC:4059
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_5
|
| gptkbp:OMIM |
137160
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:startPoint |
161318352
161372220 |
| gptkbp:strand |
plus
|
| gptkbp:UniProtID |
P14867
|
| gptkbp:bfsParent |
gptkb:LAMA5
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
ENSG00000163558
|