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 5 |
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 | 4 | 957 | XP_016863652.1 | |
AK098805.1 | ||||
AK125223.1 | ||||
AK291816.1 | ||||
BC029959.1 | AAH29959.1 | |||
CD367032.1 | ||||
M74715.1 | AAA81589.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv822428 | Chr.4:968896 - 1028144 on Build GRCh38 | Gain | DGKQ FGFRL1 SLC26A1 IDUA |
nsv1003219 | Chr.4:776106 - 1111676 on Build GRCh38 | Gain | TMEM175 DGKQ CPLX1 RNF212 FGFRL1 SLC26A1 GAK LOC100129917 IDUA |
esv3599384 | Chr.4:974637 - 1010875 on Build GRCh38 | Gain | SLC26A1 IDUA |
nsv593226 | Chr.4:948218 - 1025223 on Build GRCh38 | Loss | TMEM175 DGKQ FGFRL1 SLC26A1 IDUA |
nsv822425 | Chr.4:546316 - 1420011 on Build GRCh38 | Loss | TMEM175 CTBP1-AS2 DGKQ LOC100130872 PDE6B RNF212 CRIPAK CTBP1-AS PCGF3 LOC101928521 SLC26A1 IDUA ATP5I LOC105374344 LOC107986211 TMED11P LOC101928548 UVSSA MFSD7 CTBP1 CPLX1 SPON2 FGFRL1 GAK LOC100129917 MYL5 MAEA NKX1-1 |
nsv4196 | Chr.4:961755 - 1004599 on Build GRCh38 | Deletion | DGKQ SLC26A1 IDUA |
nsv950328 | Chr.4:988213 - 1101612 on Build GRCh38 | Deletion | RNF212 FGFRL1 SLC26A1 IDUA |
nsv469998 | Chr.4:815805 - 1093743 on Build GRCh38 | Loss | TMEM175 DGKQ CPLX1 RNF212 FGFRL1 SLC26A1 GAK IDUA |
nsv1008352 | Chr.4:819605 - 1041628 on Build GRCh38 | Gain | TMEM175 DGKQ CPLX1 FGFRL1 SLC26A1 GAK IDUA |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |