Hs04597475_cn

• Gene Symbol: UXS1
• Assay Reference Genome Location: Chr.2:106109973 on build GRCh38
• Cytoband: 2q12.2

Target Gene Details

• Entrez Gene ID: 80146
• Gene Name: UDP-glucuronate decarboxylase 1
• Gene Aliases: SDR6E1, UGD
• Location: Chr.2:106093303-106194339 on Build GRCh38
• Assay Gene Location: Within Intron 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
UXS1	NM_001253875.1			NP_001240804.1
	NM_001253876.1			NP_001240805.1
	NM_025076.4			NP_079352.2
	NR_045607.1
	XM_006712775.3			XP_006712838.1
	XM_011511902.2			XP_011510204.2
	XM_011511903.2			XP_011510205.2
	XM_011511904.2			XP_011510206.1
	XM_017005008.1			XP_016860497.1
	XM_017005009.1			XP_016860498.1
	XM_017005010.1			XP_016860499.1
	XM_017005011.1			XP_016860500.1
	XM_017005012.1			XP_016860501.1
	XM_017005013.1			XP_016860502.1
	XM_017005014.1			XP_016860503.1
	AK027244.1			BAB15705.1
	AK075120.1			BAC11415.1
	AK075170.1			BAC11448.1
	AK122696.1
	AK225592.1
	AK290668.1
	AK304872.1
	AY147934.1			AAN39844.1
	AY358541.1			AAQ88905.1
	BC009819.2			AAH09819.2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv524810	Chr.2:106109472 - 106113536 on Build GRCh38	Loss	UXS1

More Information

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

Panther Classification:

Molecular Function -

decarboxylase

Gene Ontology Categories:

Process(es)

UDP-D-xylose biosynthetic process
protein tetramerization

Function(s)

protein homodimerization activity
UDP-glucuronate decarboxylase activity
NAD+ binding