Basic Information
TOMM40
Full name: translocase of outer mitochondrial membrane 40
Gene type: protein coding
HGNC ID: HGNC:18001
Gene location: 19q13.32
Gene resources
NCBI: https://www.ncbi.nlm.nih.gov/gene/10452
Alliance of genome: https://www.alliancegenome.org/gene/HGNC:18001
MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_001128917.2
Protein resources
UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/O96008
AlphaFold: https://alphafold.ebi.ac.uk/entry/O96008
MEME motif:
Clinical resources
Pathway resources
KEGG pathway: https://www.genome.jp/pathway/hsa05014+10452
Variant resources
Gene | Disease type | Variant type | NCBI dbSNP | Alleles | Variant location |
---|---|---|---|---|---|
TOMM40 | AMD | 3 Prime UTR Variant | rs10119 | G>A | chr19:44903416 (GRCh38.p13) Help |
TOMM40 | nAMD | rs2075650 |