Survival Motor Neuron 2, centromeric
GPTKB entity
Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:FLJ26674
gptkb:SMNC SMN2A |
| gptkbp:alternativeSplicing |
produces truncated SMN protein
|
| gptkbp:associatedWith |
spinal muscular atrophy
|
| gptkbp:encodes |
gptkb:SMN_protein
|
| gptkbp:Entrez_Gene_ID |
6607
|
| gptkbp:foundIn |
gptkb:Homo_sapiens
|
| gptkbp:HGNC_ID |
11102
|
| https://www.w3.org/2000/01/rdf-schema#label |
Survival Motor Neuron 2, centromeric
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_5
5q13.2 |
| gptkbp:OMIM |
601627
|
| gptkbp:orthologIn |
Survival Motor Neuron 1, telomeric
|
| gptkbp:symbol |
gptkb:SMN2
|
| gptkbp:UniProtID |
gptkb:Q16637
|
| gptkbp:bfsParent |
gptkb:SMN2_gene
|
| gptkbp:bfsLayer |
7
|