Statements (24)
Predicate | Object |
---|---|
gptkbp:instanceOf |
Ensembl gene ID
|
gptkbp:associatedWith |
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
|
https://www.w3.org/2000/01/rdf-schema#label |
ENSG00000163558
|
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:PRKCI
gptkb:LAMA5 |
gptkbp:bfsLayer |
7
|