Statements (33)
| 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:fullName |
gamma-aminobutyric acid type A receptor alpha1 subunit
|
| gptkbp:gene |
GABRA1
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:hasRefSeqID |
NM_000806
NP_000797 |
| gptkbp:hasTranscript |
ENST00000221311
ENST00000513532 ENST00000513533 ENST00000513534 ENST00000513535 ENST00000513536 |
| gptkbp:HGNC_ID |
HGNC:4059
|
| https://www.w3.org/2000/01/rdf-schema#label |
ENSG00000128739
|
| gptkbp:locatedOnChromosome |
5
5q34 |
| gptkbp:OMIM |
137160
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:proteinFamily |
gptkb:Cys-loop_ligand-gated_ion_channel_family
GABA-A receptor subunit family |
| gptkbp:startPoint |
161318964
161389492 |
| gptkbp:strand |
plus
|
| gptkbp:UniProtID |
P14867
|
| gptkbp:bfsParent |
gptkb:SNRPN
gptkb:Snrpn |
| gptkbp:bfsLayer |
8
|