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 | 3 | 1415 | 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 | 1015 | NP_071325.2 |
NM_134425.2 | NP_602297.1 | |||
NM_213613.3 | 4 | 1230 | NP_998778.1 | |
AF297659.2 | 3 | 970 | AAG22075.1 | |
AK292747.1 | 3 | 1015 | ||
AY124771.1 | 4 | 1226 | 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 | IDUA SLC26A1 |
nsv822428 | Chr.4:968896 - 1028144 on Build GRCh38 | Gain | IDUA DGKQ SLC26A1 FGFRL1 |
nsv1003219 | Chr.4:776106 - 1111676 on Build GRCh38 | Gain | RNF212 IDUA LOC100129917 DGKQ TMEM175 SLC26A1 CPLX1 FGFRL1 GAK |
esv3599384 | Chr.4:974637 - 1010875 on Build GRCh38 | Gain | IDUA SLC26A1 |
nsv593226 | Chr.4:948218 - 1025223 on Build GRCh38 | Loss | IDUA DGKQ TMEM175 SLC26A1 FGFRL1 |
nsv4196 | Chr.4:961755 - 1004599 on Build GRCh38 | Deletion | IDUA DGKQ SLC26A1 |
nsv822425 | Chr.4:546316 - 1420011 on Build GRCh38 | Loss | IDUA LOC100130872 CTBP1-AS2 TMED11P GAK LOC101928521 MYL5 LOC105374344 CRIPAK CTBP1-AS LOC100129917 MAEA DGKQ CTBP1 ATP5I SPON2 PDE6B TMEM175 SLC26A1 CPLX1 MFSD7 RNF212 LOC101928548 NKX1-1 UVSSA PCGF3 FGFRL1 LOC107986211 |
nsv950328 | Chr.4:988213 - 1101612 on Build GRCh38 | Deletion | RNF212 IDUA SLC26A1 FGFRL1 |
nsv1078530 | Chr.4:987811 - 994112 on Build GRCh38 | Duplication | IDUA SLC26A1 |
nsv469998 | Chr.4:815805 - 1093743 on Build GRCh38 | Loss | RNF212 IDUA DGKQ TMEM175 SLC26A1 CPLX1 FGFRL1 GAK |
nsv1008352 | Chr.4:819605 - 1041628 on Build GRCh38 | Gain | IDUA DGKQ TMEM175 SLC26A1 CPLX1 FGFRL1 GAK |
More Information
Additional Information:
For this assay, SNP(s) [rs144938228] 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 Exonic Intronic Non-exonic DGV Variation |