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See other EPS8L2 CNV Assays ›
Gene Symbol
EPS8L2
Assay Reference Genome
Location

Chr.11:712553 on build GRCh38
Cytoband
11p15.5
Assay ID Hs03790188_cn
Size
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Catalog # 4400291
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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 Intron 6
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
EPS8L2 NM_022772.3 NP_073609.2
XM_017018130.1 XP_016873619.1
XM_017018131.1 XP_016873620.1
XM_017018132.1 XP_016873621.1
AK025588.1 BAB15180.1
AK025824.1 BAB15248.1
AK122903.1
AK222903.1 BAD96623.1
AK225311.1
AK294041.1
AY074929.1 AAL76118.1
BC080636.1 AAH80636.1
BC093878.1 AAH93878.1
BC101481.1 AAI01482.1
BC143242.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv469923 Chr.11:378188 - 1302334 on Build GRCh38 Loss CD151 CRACR2B LMNTD2 PNPLA2 EPS8L2 MUC5B DRD4 SCT PTDSS2 SNORA52 PIDD1 LOC171391 MIR6744 SLC25A22 PDDC1 PHRF1 RASSF7 LRRC56 CHID1 MUC2 DEAF1 MUC5AC TSPAN4 RNH1 MUC6 PANO1 LOC101927503 IRF7 HRAS B4GALNT4 LOC143666 MIR210HG TOLLIP SIGIRR CDHR5 PKP3 TMEM80 TALDO1 LOC101059906 AP2A2 RPLP2 CEND1 POLR2L ANO9 MIR210
nsv522733 Chr.11:702250 - 752059 on Build GRCh38 Loss TMEM80 TALDO1 EPS8L2
esv2759794 Chr.11:409846 - 1336162 on Build GRCh38 Loss CD151 CRACR2B LMNTD2 PNPLA2 EPS8L2 MUC5B DRD4 SCT PTDSS2 SNORA52 PIDD1 LOC171391 MIR6744 SLC25A22 TOLLIP-AS1 PDDC1 PHRF1 RASSF7 LRRC56 CHID1 MUC2 DEAF1 MUC5AC TSPAN4 RNH1 MUC6 PANO1 LOC101927503 IRF7 HRAS LOC143666 MIR210HG TOLLIP SIGIRR CDHR5 TMEM80 TALDO1 LOC101059906 AP2A2 RPLP2 CEND1 POLR2L ANO9 MIR210
nsv832043 Chr.11:631027 - 758602 on Build GRCh38 Loss DRD4 DEAF1 TMEM80 TALDO1 EPS8L2
nsv552869 Chr.11:702097 - 727446 on Build GRCh38 Loss TMEM80 EPS8L2
dgv182e199 Chr.11:349830 - 943372 on Build GRCh38 Deletion CD151 CRACR2B LMNTD2 PNPLA2 EPS8L2 DRD4 SCT PTDSS2 SNORA52 PIDD1 LOC171391 SLC25A22 PDDC1 PHRF1 RASSF7 LRRC56 CHID1 DEAF1 TSPAN4 RNH1 PANO1 IRF7 HRAS B4GALNT4 LOC143666 MIR210HG SIGIRR CDHR5 PKP3 TMEM80 TALDO1 LOC101059906 AP2A2 RPLP2 CEND1 POLR2L ANO9 MIR210
nsv1159791 Chr.11:461793 - 909492 on Build GRCh38 Deletion CD151 CRACR2B LMNTD2 PNPLA2 EPS8L2 DRD4 SCT PTDSS2 SNORA52 PIDD1 LOC171391 SLC25A22 PDDC1 PHRF1 RASSF7 LRRC56 CHID1 DEAF1 TSPAN4 RNH1 PANO1 IRF7 HRAS LOC143666 MIR210HG CDHR5 TMEM80 TALDO1 LOC101059906 RPLP2 CEND1 POLR2L MIR210

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More Information


Additional Information:

For this assay, SNP(s) [rs113249763] 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

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Function(s) Process(es)


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