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 |
nsv822428 | Chr.4:968896 - 1028144 on Build GRCh38 | Gain | FGFRL1 IDUA DGKQ SLC26A1 |
nsv1003219 | Chr.4:776106 - 1111676 on Build GRCh38 | Gain | RNF212 FGFRL1 CPLX1 IDUA GAK DGKQ TMEM175 SLC26A1 LOC100129917 |
esv3599384 | Chr.4:974637 - 1010875 on Build GRCh38 | Gain | IDUA SLC26A1 |
nsv593226 | Chr.4:948218 - 1025223 on Build GRCh38 | Loss | FGFRL1 IDUA DGKQ TMEM175 SLC26A1 |
nsv4196 | Chr.4:961755 - 1004599 on Build GRCh38 | Deletion | IDUA DGKQ SLC26A1 |
nsv822425 | Chr.4:546316 - 1420011 on Build GRCh38 | Loss | CRIPAK FGFRL1 LOC101928521 CTBP1-AS GAK CTBP1 LOC100130872 LOC105374344 CPLX1 LOC101928548 UVSSA LOC107986211 DGKQ TMED11P RNF212 SPON2 MFSD7 PDE6B SLC26A1 MYL5 PCGF3 IDUA ATP5I CTBP1-AS2 MAEA TMEM175 NKX1-1 LOC100129917 |
nsv950328 | Chr.4:988213 - 1101612 on Build GRCh38 | Deletion | RNF212 FGFRL1 IDUA SLC26A1 |
nsv469998 | Chr.4:815805 - 1093743 on Build GRCh38 | Loss | RNF212 FGFRL1 CPLX1 IDUA GAK DGKQ TMEM175 SLC26A1 |
nsv1008352 | Chr.4:819605 - 1041628 on Build GRCh38 | Gain | FGFRL1 CPLX1 IDUA GAK DGKQ TMEM175 SLC26A1 |
More Information
Additional Information:
For this assay, SNP(s) [rs73219723] 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 Intronic Non-exonic DGV Variation |