Assay Details
Target Gene Details
Entrez Gene ID: | 64787 |
Gene Name: | EPS8 like 2 |
Gene Aliases: |
EPS8R2 |
Location: |
Chr.11:705217-727727 on Build GRCh38 |
Assay Gene Location: | Within Exon 23 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EPS8L2 | NM_022772.3 | 21 | 2584 | NP_073609.2 |
XM_017018130.1 | 22 | 2801 | XP_016873619.1 | |
XM_017018131.1 | 21 | 2672 | XP_016873620.1 | |
XM_017018132.1 | 22 | 2642 | XP_016873621.1 | |
AK025588.1 | 21 | 2502 | BAB15180.1 | |
AK025824.1 | 21 | 2502 | BAB15248.1 | |
AK027765.1 | 9 | 1396 | BAB55354.1 | |
AK094539.1 | 13 | 1680 | ||
AK122903.1 | 18 | 2780 | ||
AK122984.1 | 6 | 1050 | ||
AK222903.1 | 21 | 2497 | BAD96623.1 | |
AK225311.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv522733 | Chr.11:702250 - 752059 on Build GRCh38 | Loss | TMEM80 TALDO1 EPS8L2 |
nsv469923 | Chr.11:378188 - 1302334 on Build GRCh38 | Loss | LOC101927503 LMNTD2 POLR2L MUC6 SNORA52 DEAF1 MUC2 TSPAN4 RNH1 AP2A2 LOC171391 RASSF7 HRAS PIDD1 DRD4 MIR210 LOC101059906 PDDC1 LRRC56 PANO1 CEND1 TMEM80 MUC5B CD151 CHID1 TOLLIP PNPLA2 IRF7 CDHR5 RPLP2 MIR6744 MIR210HG SIGIRR MUC5AC TALDO1 PKP3 PHRF1 CRACR2B SLC25A22 SCT ANO9 PTDSS2 B4GALNT4 LOC143666 EPS8L2 |
nsv832043 | Chr.11:631027 - 758602 on Build GRCh38 | Loss | TMEM80 DRD4 DEAF1 TALDO1 EPS8L2 |
esv2759794 | Chr.11:409846 - 1336162 on Build GRCh38 | Loss | LOC101927503 LMNTD2 POLR2L MUC6 SNORA52 DEAF1 MUC2 TSPAN4 RNH1 AP2A2 LOC171391 RASSF7 HRAS PIDD1 DRD4 MIR210 LOC101059906 PDDC1 LRRC56 PANO1 CEND1 TMEM80 MUC5B CD151 CHID1 TOLLIP PNPLA2 IRF7 CDHR5 RPLP2 MIR6744 MIR210HG SIGIRR TOLLIP-AS1 MUC5AC TALDO1 PHRF1 CRACR2B SLC25A22 SCT ANO9 PTDSS2 LOC143666 EPS8L2 |
nsv552869 | Chr.11:702097 - 727446 on Build GRCh38 | Loss | TMEM80 EPS8L2 |
dgv182e199 | Chr.11:349830 - 943372 on Build GRCh38 | Deletion | LMNTD2 POLR2L SNORA52 DEAF1 TSPAN4 RNH1 AP2A2 LOC171391 RASSF7 HRAS PIDD1 DRD4 MIR210 LOC101059906 PDDC1 LRRC56 PANO1 CEND1 TMEM80 CD151 CHID1 PNPLA2 IRF7 CDHR5 RPLP2 MIR210HG SIGIRR TALDO1 PKP3 PHRF1 CRACR2B SLC25A22 SCT ANO9 PTDSS2 B4GALNT4 LOC143666 EPS8L2 |
nsv1159791 | Chr.11:461793 - 909492 on Build GRCh38 | Deletion | LMNTD2 POLR2L SNORA52 DEAF1 TSPAN4 RNH1 LOC171391 RASSF7 HRAS PIDD1 DRD4 MIR210 LOC101059906 PDDC1 LRRC56 PANO1 CEND1 TMEM80 CD151 CHID1 PNPLA2 IRF7 CDHR5 RPLP2 MIR210HG TALDO1 PHRF1 CRACR2B SLC25A22 SCT PTDSS2 LOC143666 EPS8L2 |
esv33757 | Chr.11:723475 - 727720 on Build GRCh38 | Gain | EPS8L2 |
More Information
Additional Information:
For this assay, SNP(s) [rs145863912] 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 DGV Variation |