Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:sickle_cell_anemia
beta thalassemia |
| gptkbp:encodes |
hemoglobin subunit beta
|
| gptkbp:Entrez_Gene_ID |
3043
|
| gptkbp:expressedIn |
red blood cells
|
| gptkbp:function |
oxygen transport
|
| gptkbp:hasTranscriptVariant |
NM_000518.5
|
| gptkbp:HGNC_ID |
4827
|
| https://www.w3.org/2000/01/rdf-schema#label |
hemoglobin beta gene
|
| gptkbp:locatedOnChromosome |
chromosome 11
11p15.4 |
| gptkbp:mutationAssociatedWith |
missense mutation
nonsense mutation frameshift mutation |
| gptkbp:OMIM |
141900
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Hbb-b1
|
| gptkbp:product |
gptkb:Hemoglobin_subunit_beta
|
| gptkbp:symbol |
gptkb:HBB
|
| gptkbp:UniProtID |
P68871
|
| gptkbp:bfsParent |
gptkb:HBB_gene
|
| gptkbp:bfsLayer |
6
|