Assay Details
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 Intron 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SLC26A1 | NM_134425.2 | NP_602297.1 | ||
BC015517.2 | AAH15517.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv822428 | Chr.4:968896 - 1028144 on Build GRCh38 | Gain | FGFRL1 IDUA DGKQ SLC26A1 |
nsv1003219 | Chr.4:776106 - 1111676 on Build GRCh38 | Gain | FGFRL1 RNF212 IDUA LOC100129917 TMEM175 CPLX1 DGKQ SLC26A1 GAK |
esv3599384 | Chr.4:974637 - 1010875 on Build GRCh38 | Gain | IDUA SLC26A1 |
nsv593226 | Chr.4:948218 - 1025223 on Build GRCh38 | Loss | FGFRL1 IDUA TMEM175 DGKQ SLC26A1 |
esv3599385 | Chr.4:983183 - 986434 on Build GRCh38 | Loss | SLC26A1 |
nsv4196 | Chr.4:961755 - 1004599 on Build GRCh38 | Deletion | IDUA DGKQ SLC26A1 |
nsv822425 | Chr.4:546316 - 1420011 on Build GRCh38 | Loss | CTBP1-AS2 UVSSA DGKQ PCGF3 MFSD7 CRIPAK LOC101928548 LOC105374344 CPLX1 ATP5I MAEA FGFRL1 RNF212 IDUA LOC101928521 LOC100129917 SPON2 PDE6B NKX1-1 TMEM175 MYL5 SLC26A1 GAK TMED11P LOC100130872 CTBP1 LOC107986211 CTBP1-AS |
nsv469998 | Chr.4:815805 - 1093743 on Build GRCh38 | Loss | FGFRL1 RNF212 IDUA TMEM175 CPLX1 DGKQ SLC26A1 GAK |
dgv1450e212 | Chr.4:976838 - 986842 on Build GRCh38 | Gain | SLC26A1 |
nsv1008352 | Chr.4:819605 - 1041628 on Build GRCh38 | Gain | FGFRL1 IDUA TMEM175 CPLX1 DGKQ SLC26A1 GAK |
More Information
Additional Information:
For this assay, SNP(s) [rs192526712] 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 |