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See other IDUA CNV Assays ›
Gene Symbol
IDUA
Assay Reference Genome
Location

Chr.4:999539 on build GRCh38
Cytoband
4p16.3
Assay ID Hs03513129_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

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
nsv1003219 Chr.4:776106 - 1111676 on Build GRCh38 Gain DGKQ LOC100129917 TMEM175 IDUA SLC26A1 GAK RNF212 FGFRL1 CPLX1
nsv822428 Chr.4:968896 - 1028144 on Build GRCh38 Gain DGKQ IDUA SLC26A1 FGFRL1
nsv593226 Chr.4:948218 - 1025223 on Build GRCh38 Loss DGKQ TMEM175 IDUA SLC26A1 FGFRL1
esv3599384 Chr.4:974637 - 1010875 on Build GRCh38 Gain IDUA SLC26A1
nsv822425 Chr.4:546316 - 1420011 on Build GRCh38 Loss MYL5 ATP5I LOC100130872 LOC107986211 MAEA CPLX1 LOC105374344 DGKQ TMED11P CTBP1 LOC101928548 IDUA PDE6B CTBP1-AS SPON2 CTBP1-AS2 PCGF3 NKX1-1 CRIPAK LOC101928521 LOC100129917 TMEM175 SLC26A1 UVSSA GAK MFSD7 RNF212 FGFRL1
nsv4196 Chr.4:961755 - 1004599 on Build GRCh38 Deletion DGKQ IDUA SLC26A1
nsv950328 Chr.4:988213 - 1101612 on Build GRCh38 Deletion IDUA SLC26A1 RNF212 FGFRL1
nsv469998 Chr.4:815805 - 1093743 on Build GRCh38 Loss DGKQ TMEM175 IDUA SLC26A1 GAK RNF212 FGFRL1 CPLX1
nsv1008352 Chr.4:819605 - 1041628 on Build GRCh38 Gain DGKQ TMEM175 IDUA SLC26A1 GAK FGFRL1 CPLX1
esv2726742 Chr.4:999540 - 1000116 on Build GRCh38 Deletion IDUA

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More Information


Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

glycosidase

Gene Ontology Categories:

Function(s) Process(es)


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