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

Chr.4:988439 on build GRCh38
Cytoband
4p16.3
Assay ID Hs02709855_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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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 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 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 2667 NP_071325.2
NM_134425.2 NP_602297.1
NM_213613.3 4 2882 NP_998778.1
AF297659.2 3 2622 AAG22075.1
AK292747.1 3 2667
AY124771.1 4 2878 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 FGFRL1 SLC26A1 IDUA DGKQ
nsv1003219 Chr.4:776106 - 1111676 on Build GRCh38 Gain RNF212 FGFRL1 SLC26A1 IDUA DGKQ LOC100129917 TMEM175 GAK CPLX1
esv3599384 Chr.4:974637 - 1010875 on Build GRCh38 Gain SLC26A1 IDUA
nsv593226 Chr.4:948218 - 1025223 on Build GRCh38 Loss FGFRL1 SLC26A1 IDUA DGKQ TMEM175
nsv4196 Chr.4:961755 - 1004599 on Build GRCh38 Deletion SLC26A1 IDUA DGKQ
nsv822425 Chr.4:546316 - 1420011 on Build GRCh38 Loss CTBP1-AS2 NKX1-1 IDUA LOC100129917 LOC101928548 MFSD7 CPLX1 FGFRL1 LOC107986211 CTBP1-AS SLC26A1 CTBP1 LOC100130872 DGKQ TMED11P MYL5 LOC105374344 CRIPAK SPON2 RNF212 PCGF3 MAEA PDE6B LOC101928521 TMEM175 UVSSA GAK ATP5I
nsv950328 Chr.4:988213 - 1101612 on Build GRCh38 Deletion RNF212 FGFRL1 SLC26A1 IDUA
nsv1078530 Chr.4:987811 - 994112 on Build GRCh38 Duplication SLC26A1 IDUA
nsv469998 Chr.4:815805 - 1093743 on Build GRCh38 Loss RNF212 FGFRL1 SLC26A1 IDUA DGKQ TMEM175 GAK CPLX1
nsv1008352 Chr.4:819605 - 1041628 on Build GRCh38 Gain FGFRL1 SLC26A1 IDUA DGKQ TMEM175 GAK CPLX1

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