Hs02179915_cn

• Gene Symbol: IDUA
• Assay Reference Genome Location: Chr.4:990091 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	1415	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: Within Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC26A1	NM_022042.3	3	1015	NP_071325.2
	NM_134425.2			NP_602297.1
	NM_213613.3	4	1230	NP_998778.1
	AF297659.2	3	970	AAG22075.1
	AK292747.1	3	1015
	AY124771.1	4	1226	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	IDUA SLC26A1
nsv822428	Chr.4:968896 - 1028144 on Build GRCh38	Gain	IDUA DGKQ SLC26A1 FGFRL1
nsv1003219	Chr.4:776106 - 1111676 on Build GRCh38	Gain	RNF212 IDUA LOC100129917 DGKQ TMEM175 SLC26A1 CPLX1 FGFRL1 GAK
esv3599384	Chr.4:974637 - 1010875 on Build GRCh38	Gain	IDUA SLC26A1
nsv593226	Chr.4:948218 - 1025223 on Build GRCh38	Loss	IDUA DGKQ TMEM175 SLC26A1 FGFRL1
nsv4196	Chr.4:961755 - 1004599 on Build GRCh38	Deletion	IDUA DGKQ SLC26A1
nsv822425	Chr.4:546316 - 1420011 on Build GRCh38	Loss	IDUA LOC100130872 CTBP1-AS2 TMED11P GAK LOC101928521 MYL5 LOC105374344 CRIPAK CTBP1-AS LOC100129917 MAEA DGKQ CTBP1 ATP5I SPON2 PDE6B TMEM175 SLC26A1 CPLX1 MFSD7 RNF212 LOC101928548 NKX1-1 UVSSA PCGF3 FGFRL1 LOC107986211
nsv950328	Chr.4:988213 - 1101612 on Build GRCh38	Deletion	RNF212 IDUA SLC26A1 FGFRL1
nsv1078530	Chr.4:987811 - 994112 on Build GRCh38	Duplication	IDUA SLC26A1
nsv469998	Chr.4:815805 - 1093743 on Build GRCh38	Loss	RNF212 IDUA DGKQ TMEM175 SLC26A1 CPLX1 FGFRL1 GAK
nsv1008352	Chr.4:819605 - 1041628 on Build GRCh38	Gain	IDUA DGKQ TMEM175 SLC26A1 CPLX1 FGFRL1 GAK

More Information

Additional Information:

For this assay, SNP(s) [rs144938228] 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, Exonic, 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