Hs00440994_cn

• Gene Symbol: IDUA
• Assay Reference Genome Location: Chr.4:991139 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 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
IDUA	NM_000203.4			NP_000194.2
	NR_110313.1
	XM_017008163.1			XP_016863652.1
	AB208901.1	3	2463	BAD92138.1
	AK125223.1
	AK291816.1
	BC029959.1			AAH29959.1
	DA057148.1
	M74715.1			AAA81589.1

Target Gene Details

• Entrez Gene ID: 10861
• Gene Name: solute carrier family 26 member 1
• Gene Aliases: CAON, EDM4, SAT-1, SAT1
• Location: Chr.4:979073-993440 on Build GRCh38
• Assay Gene Location: Overlaps Intron 3 - Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC26A1	NM_022042.3			NP_071325.2
	NM_134425.2			NP_602297.1
	NM_213613.3			NP_998778.1
	AF297659.2			AAG22075.1
	AK292747.1
	AY124771.1			AAM94171.1
	BC015517.2			AAH15517.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv482086	Chr.4:987659 - 993436 on Build GRCh38	Gain	SLC26A1 IDUA
nsv822428	Chr.4:968896 - 1028144 on Build GRCh38	Gain	DGKQ SLC26A1 FGFRL1 IDUA
nsv1003219	Chr.4:776106 - 1111676 on Build GRCh38	Gain	DGKQ GAK LOC100129917 SLC26A1 RNF212 CPLX1 FGFRL1 TMEM175 IDUA
esv3599384	Chr.4:974637 - 1010875 on Build GRCh38	Gain	SLC26A1 IDUA
nsv593226	Chr.4:948218 - 1025223 on Build GRCh38	Loss	DGKQ SLC26A1 FGFRL1 TMEM175 IDUA
nsv4196	Chr.4:961755 - 1004599 on Build GRCh38	Deletion	DGKQ SLC26A1 IDUA
nsv822425	Chr.4:546316 - 1420011 on Build GRCh38	Loss	DGKQ RNF212 LOC107986211 CPLX1 FGFRL1 MYL5 ATP5I UVSSA PCGF3 MFSD7 CRIPAK SPON2 IDUA CTBP1-AS2 LOC101928548 TMED11P CTBP1-AS MAEA GAK LOC105374344 LOC100129917 SLC26A1 LOC100130872 NKX1-1 CTBP1 LOC101928521 PDE6B TMEM175
nsv950328	Chr.4:988213 - 1101612 on Build GRCh38	Deletion	SLC26A1 RNF212 FGFRL1 IDUA
nsv1078530	Chr.4:987811 - 994112 on Build GRCh38	Duplication	SLC26A1 IDUA
nsv469998	Chr.4:815805 - 1093743 on Build GRCh38	Loss	DGKQ GAK SLC26A1 RNF212 CPLX1 FGFRL1 TMEM175 IDUA
nsv1008352	Chr.4:819605 - 1041628 on Build GRCh38	Gain	DGKQ GAK SLC26A1 CPLX1 FGFRL1 TMEM175 IDUA

More Information

Additional Information:

For this assay, SNP(s) [rs114936403] 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, transporter

Gene Ontology Categories:

Process(es)

disaccharide metabolic process
glycosaminoglycan catabolic process
chondroitin sulfate catabolic process
dermatan sulfate catabolic process
ion transport
chloride transport
sulfate transport
bicarbonate transport
oxalate transport
regulation of membrane potential
3'-phosphoadenosine 5'-phosphosulfate biosynthetic process
regulation of intracellular pH
sulfate transmembrane transport
chloride transmembrane transport

Function(s)

L-iduronidase activity
receptor binding
chloride channel activity
secondary active sulfate transmembrane transporter activity
bicarbonate transmembrane transporter activity
chloride transmembrane transporter activity
sulfate transmembrane transporter activity
anion:anion antiporter activity
oxalate transmembrane transporter activity