Hs03506215_cn

• Gene Symbol: IDUA
• Assay Reference Genome Location: Chr.4:998313 on build GRCh38
• Cytoband: 4p16.3

Target Gene Details

• Entrez Gene ID: 3425
• Gene Name: iduronidase, alpha-L-
• Gene Aliases: IDA, MPS1
• Location: Chr.4:986997-1004557 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
IDUA	NM_000203.4			NP_000194.2
	NR_110313.1
	XM_011513461.2			XP_011511763.1
	XM_017008163.1			XP_016863652.1
	AK125223.1
	AK291816.1
	BC029959.1			AAH29959.1
	DA057148.1
	M74715.1			AAA81589.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv822429	Chr.4:996683 - 999735 on Build GRCh38	Gain	IDUA
nsv822428	Chr.4:968896 - 1028144 on Build GRCh38	Gain	FGFRL1 IDUA DGKQ SLC26A1
nsv1003219	Chr.4:776106 - 1111676 on Build GRCh38	Gain	RNF212 FGFRL1 CPLX1 IDUA GAK DGKQ TMEM175 SLC26A1 LOC100129917
esv3599384	Chr.4:974637 - 1010875 on Build GRCh38	Gain	IDUA SLC26A1
nsv593226	Chr.4:948218 - 1025223 on Build GRCh38	Loss	FGFRL1 IDUA DGKQ TMEM175 SLC26A1
nsv4196	Chr.4:961755 - 1004599 on Build GRCh38	Deletion	IDUA DGKQ SLC26A1
nsv822425	Chr.4:546316 - 1420011 on Build GRCh38	Loss	CRIPAK FGFRL1 LOC101928521 CTBP1-AS GAK CTBP1 LOC100130872 LOC105374344 CPLX1 LOC101928548 UVSSA LOC107986211 DGKQ TMED11P RNF212 SPON2 MFSD7 PDE6B SLC26A1 MYL5 PCGF3 IDUA ATP5I CTBP1-AS2 MAEA TMEM175 NKX1-1 LOC100129917
nsv950328	Chr.4:988213 - 1101612 on Build GRCh38	Deletion	RNF212 FGFRL1 IDUA SLC26A1
nsv469998	Chr.4:815805 - 1093743 on Build GRCh38	Loss	RNF212 FGFRL1 CPLX1 IDUA GAK DGKQ TMEM175 SLC26A1
nsv1008352	Chr.4:819605 - 1041628 on Build GRCh38	Gain	FGFRL1 CPLX1 IDUA GAK DGKQ TMEM175 SLC26A1

More Information

Additional Information:

For this assay, SNP(s) [rs73219723] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

glycosidase

Gene Ontology Categories:

Process(es)

disaccharide metabolic process
glycosaminoglycan catabolic process
chondroitin sulfate catabolic process
dermatan sulfate catabolic process

Function(s)

L-iduronidase activity
receptor binding