Hs00875457_cn

• Gene Symbol: UROC1
• Assay Reference Genome Location: Chr.3:126483358 on build GRCh38
• Cytoband: 3q21.3

Target Gene Details

• Entrez Gene ID: 131669
• Gene Name: urocanate hydratase 1
• Gene Aliases: HMFN0320, UROCD
• Location: Chr.3:126481165-126517773 on Build GRCh38
• Assay Gene Location: Overlaps Intron 20 - Exon 20

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
UROC1	NM_001165974.1			NP_001159446.1
	NM_144639.2			NP_653240.1
	AB075869.1			BAD38651.1
	AK055862.1			BAB71032.1
	BC115405.1
	BC115406.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv829717	Chr.3:126397190 - 126583201 on Build GRCh38	Loss	UROC1 CHST13 LOC105374089 CFAP100 ZXDC TXNRD3NB C3orf22

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

hydratase, lyase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

histidine catabolic process
histidine catabolic process to glutamate and formamide
histidine catabolic process to glutamate and formate

Function(s)

urocanate hydratase activity