Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:Dystonia_9
GLUT1DS |
| gptkbp:associatedWith |
gptkb:GLUT1_deficiency_syndrome
stomatin-deficient cryohydrocytosis |
| gptkbp:endPoint |
43410877
|
| gptkbp:Ensembl_Transcript_ID |
ENST00000370753
|
| gptkbp:Entrez_Gene_ID |
6513
|
| gptkbp:fullName |
gptkb:solute_carrier_family_2_member_1
|
| gptkbp:function |
amino acid transporter
|
| gptkbp:gene |
gptkb:SLC2A1
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
11005
|
| https://www.w3.org/2000/01/rdf-schema#label |
ENSG00000179218
|
| gptkbp:locatedOnChromosome |
chromosome 1
|
| gptkbp:OMIM |
138140
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:product |
gptkb:GLUT1
|
| gptkbp:startPoint |
43396443
|
| gptkbp:strand |
plus
|
| gptkbp:UniProtID |
P11166
|
| gptkbp:bfsParent |
gptkb:CALR
|
| gptkbp:bfsLayer |
7
|