Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
LRRN6A
leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 |
| gptkbp:associatedWith |
retinal function
|
| gptkbp:chromosomeArm |
6q24.2
|
| gptkbp:encodes |
Leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 protein
|
| gptkbp:Entrez_Gene_ID |
ENSG00000112282
221914 |
| gptkbp:expressedIn |
retina
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:21041
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_6
|
| gptkbp:mutationAssociatedWith |
congenital stationary night blindness
|
| gptkbp:OMIM |
615004
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
Q8N6F1
|
| gptkbp:bfsParent |
gptkb:Lysine-rich_tail-interacting_protein
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
LRIT1 gene
|