Basic Information

PON1

Full name: paraoxonase 1

Gene type: protein coding

HGNC ID: HGNC:9204

Gene location: 7q21.3

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/5444

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:9204

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_000446.7

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/P27169

AlphaFold: https://alphafold.ebi.ac.uk/entry/P27169

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/168820

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=5444

Pathway resources

Variant resources

Gene Disease type Variant type NCBI dbSNP Alleles Variant location
PON1 2KB Upstream Variant rs705379 G>A / G>C / G>T chr7:95324583 (GRCh38.p13)
PON1 2KB Upstream Variant rs705380 G>A / G>C chr7:95324601 (GRCh38.p13)
PON1 2KB Upstream Variant rs705381 T>C chr7:95324637 (GRCh38.p13)
PON1 2KB Upstream Variant rs854571 T>C chr7:95325307 (GRCh38.p13)
PON1 2KB Upstream Variant rs854572 C>G chr7:95325384 (GRCh38.p13)
PON1 2KB Upstream Variant rs854573 C>G / C>T chr7:95325551 (GRCh38.p13)
PON1 2KB Upstream Variant rs757158 C>T chr7:95326216 (GRCh38.p13)
PON1 Intron Variant rs2237583 C>G / C>T chr7:95320865 (GRCh38.p13)
PON1 Missense Variant rs854560 A>C / A>G / A>N / A>T chr7:95316772 (GRCh38.p13)
PON1 Missense Variant rs662 T>A / T>C / T>G chr7:95308134 (GRCh38.p13)
PON1 3 Prime UTR Variant rs854552 C>A / C>G / C>T chr7:95298612 (GRCh38.p13)