Hs07167757_cn

• Gene Symbol: HAO1
• Assay Reference Genome Location: Chr.20:7889339 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 Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HAO1	NM_017545.2			NP_060015.1
	AB024079.1			BAA82872.1
	AF231916.1			AAF40199.1
	AF244134.1			AAF63219.1
	AK289423.1
	AK308963.1
	AK313839.1
	AL121739.1			CAB57329.1
	BC113665.1
	BC113667.1

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	TMX4 HAO1 LOC105372520
nsv585384	Chr.20:7571617 - 8336371 on Build GRCh38	Gain	PLCB1-IT1 PLCB1 TMX4 HAO1 LOC105372520
esv3893279	Chr.20:7582024 - 7999743 on Build GRCh38	Gain	TMX4 HAO1
nsv833915	Chr.20:7798839 - 7957303 on Build GRCh38	Gain	HAO1

More Information

• Set Membership: Intragenic, Intronic, Non-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