Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
exon 7 skipping
|
| gptkbp:associatedWith |
spinal muscular atrophy
|
| gptkbp:discoveredIn |
1995
|
| gptkbp:encodes |
gptkb:SMN_protein
|
| gptkbp:Entrez_Gene_ID |
6607
|
| gptkbp:expressedIn |
gptkb:human
|
| gptkbp:fullName |
gptkb:Survival_of_Motor_Neuron_2
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:hasParalog |
gptkb:SMN1
|
| gptkbp:hasTranscriptVariant |
multiple
|
| gptkbp:HGNC_ID |
11102
|
| https://www.w3.org/2000/01/rdf-schema#label |
SMN2
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_5
5q13.2 |
| gptkbp:mutationAssociatedWith |
modifies severity of spinal muscular atrophy
|
| gptkbp:OMIM |
601627
|
| gptkbp:orthologInMouse |
Smn2
|
| gptkbp:UniProtID |
gptkb:Q16637
|
| gptkbp:bfsParent |
gptkb:SMN1
gptkb:Spinal_Muscular_Atrophy |
| gptkbp:bfsLayer |
6
|