Basic Information
ACO1
Full name: aconitase 1
Gene type: protein coding
HGNC ID: HGNC:117
Gene location: 9p21.1
Gene resources
NCBI: https://www.ncbi.nlm.nih.gov/gene/48
Alliance of genome: https://www.alliancegenome.org/gene/HGNC:117
MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_002197.3
Protein resources
UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/P21399
AlphaFold: https://alphafold.ebi.ac.uk/entry/P21399
MEME motif:
Clinical resources
Pathway resources
KEGG pathway: https://www.genome.jp/pathway/hsa00020+48
Variant resources
Gene | Disease type | Variant type | NCBI dbSNP | Alleles | Variant location |
---|---|---|---|---|---|
ACO1 | AMD | 2KB Upstream Variant | rs867469 | G>A | chr9:32383710 (GRCh38.p13) |