Hs00839642_cn

• Gene Symbol: HAO1
• Assay Reference Genome Location: Chr.20:7883421 on build GRCh38
• Cytoband: 20p12.3

Target Gene Details

• Entrez Gene ID: 54363
• Gene Name: hydroxyacid oxidase 1
• Gene Aliases: GOX, GOX1, HAOX1
• Location: Chr.20:7882984-7940446 on Build GRCh38
• Assay Gene Location: Within Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HAO1	NM_017545.2	8	1309	NP_060015.1
	AF231916.1	8	1309	AAF40199.1
	AL121739.1	8	1337	CAB57329.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1059059	Chr.20:7793987 - 8053708 on Build GRCh38	Gain	LOC105372520 HAO1 TMX4
nsv585384	Chr.20:7571617 - 8336371 on Build GRCh38	Gain	LOC105372520 PLCB1 PLCB1-IT1 HAO1 TMX4
esv3893279	Chr.20:7582024 - 7999743 on Build GRCh38	Gain	HAO1 TMX4
nsv833915	Chr.20:7798839 - 7957303 on Build GRCh38	Gain	HAO1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

oxidoreductase

Gene Ontology Categories:

Process(es)

fatty acid alpha-oxidation
response to oxidative stress
glycolate catabolic process
glyoxylate metabolic process

Function(s)

(S)-2-hydroxy-acid oxidase activity
receptor binding
glycolate oxidase activity
FMN binding
glyoxylate oxidase activity
very-long-chain-(S)-2-hydroxy-acid oxidase activity
long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity
medium-chain-(S)-2-hydroxy-acid oxidase activity