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 Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
IDUA | NM_000203.4 | 7 | 925 | NP_000194.2 |
NR_110313.1 | 7 | 925 | ||
XM_011513461.2 | 6 | 1070 | XP_011511763.1 | |
XM_017008163.1 | 6 | 1379 | XP_016863652.1 | |
AK098805.1 | 6 | 893 | ||
AK125223.1 | 5 | 837 | ||
AK291816.1 | 7 | 858 | ||
BC029959.1 | 7 | 849 | AAH29959.1 | |
CD367032.1 | ||||
M74715.1 | 7 | 925 | AAA81589.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv822428 | Chr.4:968896 - 1028144 on Build GRCh38 | Gain | FGFRL1 DGKQ IDUA SLC26A1 |
nsv1003219 | Chr.4:776106 - 1111676 on Build GRCh38 | Gain | FGFRL1 DGKQ IDUA SLC26A1 TMEM175 RNF212 CPLX1 GAK LOC100129917 |
esv3599384 | Chr.4:974637 - 1010875 on Build GRCh38 | Gain | IDUA SLC26A1 |
nsv593226 | Chr.4:948218 - 1025223 on Build GRCh38 | Loss | FGFRL1 DGKQ IDUA SLC26A1 TMEM175 |
nsv4196 | Chr.4:961755 - 1004599 on Build GRCh38 | Deletion | DGKQ IDUA SLC26A1 |
nsv822425 | Chr.4:546316 - 1420011 on Build GRCh38 | Loss | LOC101928521 DGKQ NKX1-1 SPON2 GAK LOC105374344 LOC101928548 TMED11P IDUA RNF212 ATP5I PCGF3 LOC100129917 CTBP1-AS2 MFSD7 SLC26A1 LOC100130872 MAEA PDE6B FGFRL1 CRIPAK LOC107986211 UVSSA TMEM175 CTBP1-AS CPLX1 CTBP1 MYL5 |
nsv950328 | Chr.4:988213 - 1101612 on Build GRCh38 | Deletion | FGFRL1 IDUA SLC26A1 RNF212 |
nsv469998 | Chr.4:815805 - 1093743 on Build GRCh38 | Loss | FGFRL1 DGKQ IDUA SLC26A1 TMEM175 RNF212 CPLX1 GAK |
nsv1008352 | Chr.4:819605 - 1041628 on Build GRCh38 | Gain | FGFRL1 DGKQ IDUA SLC26A1 TMEM175 CPLX1 GAK |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |