Statements (70)
Predicate | Object |
---|---|
gptkbp:instanceOf |
Ensembl gene ID
|
gptkbp:associatedWith |
gptkb:Tangier_disease
Familial high-density lipoprotein deficiency |
gptkbp:biotype |
protein_coding
|
gptkbp:encodes |
gptkb:ATP-binding_cassette_sub-family_A_member_1
|
gptkbp:gene |
gptkb:ABCA1
|
gptkbp:hasTranscript |
ENST00000535674
ENST00000263253 ENST00000535675 ENST00000535676 ENST00000535677 ENST00000535678 ENST00000535679 ENST00000535680 ENST00000535681 ENST00000535682 ENST00000535683 ENST00000535684 ENST00000535685 ENST00000535686 ENST00000535687 ENST00000535688 ENST00000535689 ENST00000535690 ENST00000535691 ENST00000535692 ENST00000535693 ENST00000535694 ENST00000535695 ENST00000535696 ENST00000535697 ENST00000535698 ENST00000535699 ENST00000535700 ENST00000535701 ENST00000535702 ENST00000535703 ENST00000535704 ENST00000535705 ENST00000535706 ENST00000535707 ENST00000535708 ENST00000535709 ENST00000535710 ENST00000535711 ENST00000535712 ENST00000535713 ENST00000535714 ENST00000535715 ENST00000535716 ENST00000535717 ENST00000535718 ENST00000535719 ENST00000535720 |
gptkbp:HGNC_ID |
gptkb:HGNC:29
|
https://www.w3.org/2000/01/rdf-schema#label |
ENSG00000100030
|
gptkbp:locatedOnChromosome |
gptkb:9q31.1
9 |
gptkbp:NCBI_Gene_ID |
19
|
gptkbp:OMIM |
600046
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:referenceGenome |
gptkb:GRCh38
|
gptkbp:startPoint |
104835818
104947356 |
gptkbp:strand |
plus
|
gptkbp:UniProtID |
gptkb:O95477
|
gptkbp:bfsParent |
gptkb:ERK2
gptkb:MAPK1 gptkb:MAPK1_gene |
gptkbp:bfsLayer |
7
|