Basic Information
SOD2
Full name: superoxide dismutase 2
Gene type: protein coding
HGNC ID: HGNC:11180
Gene location: 6q25.3
Gene resources
NCBI: https://www.ncbi.nlm.nih.gov/gene/6648
Alliance of genome: https://www.alliancegenome.org/gene/HGNC:11180
MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_000636.4
Protein resources
UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/P04179
AlphaFold: https://alphafold.ebi.ac.uk/entry/P04179
MEME motif:
Clinical resources
Pathway resources
KEGG pathway: https://www.genome.jp/pathway/hsa04068+6648
Variant resources
Gene | Disease type | Variant type | NCBI dbSNP | Alleles | Variant location |
---|---|---|---|---|---|
SOD2 | AMD | Missense Variant | rs4880 | A>G | chr6:159692840 (GRCh38.p13) |
SOD2 | AMD | Intron Variant | rs5746136 | C>A / C>T | chr6:159682052 (GRCh38.p13) |
SOD2 | AMD | N/A | rs2842992 | G>A | chr6:159650127 (GRCh38.p13) |