Assay Details
Target Gene Details
Entrez Gene ID: | 54869 |
Gene Name: | EPS8 like 1 |
Gene Aliases: |
DRC3, EPS8R1, PP10566 |
Location: |
Chr.19:55075853-55087923 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EPS8L1 | NM_133180.2 | NP_573441.2 | ||
XM_005259020.1 | XP_005259077.1 | |||
XM_011527051.2 | XP_011525353.1 | |||
XM_011527052.2 | XP_011525354.1 | |||
AF370395.1 | AAQ15231.1 | |||
AK075098.1 | BAC11399.1 | |||
AK296732.1 | ||||
AK309305.1 | ||||
AK309908.1 | ||||
AY074928.1 | AAL76117.1 | |||
BC004907.2 | AAH04907.2 | |||
DA452167.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv817874 | Chr.19:55067334 - 55103555 on Build GRCh38 | Loss | RDH13 PPP1R12C EPS8L1 |
esv3644829 | Chr.19:55030893 - 55138732 on Build GRCh38 | Gain | MIR7975 RDH13 TNNT1 PPP1R12C GP6 EPS8L1 |
esv2667609 | Chr.19:54472514 - 55094226 on Build GRCh38 | Deletion | KIR3DL2 KIR2DL4 KIR2DL3 MIR8061 LILRB4 NLRP7 FCAR KIR2DS4 KIR3DX1 GP6 EPS8L1 NCR1 LOC102724300 CDC42EP5 LAIR2 NLRP2 PPP1R12C LILRA1 LILRB1 KIR2DL1 LILRP2 LILRA2 RDH13 KIR3DL1 KIR3DL3 LOC101928804 |
esv2758772 | Chr.19:55026094 - 55139319 on Build GRCh38 | Gain | MIR7975 RDH13 TNNT1 PPP1R12C GP6 EPS8L1 |
nsv817875 | Chr.19:55070143 - 55090747 on Build GRCh38 | Loss | EPS8L1 |
esv2718872 | Chr.19:54472594 - 55094247 on Build GRCh38 | Deletion | KIR3DL2 KIR2DL4 KIR2DL3 MIR8061 LILRB4 NLRP7 FCAR KIR2DS4 KIR3DX1 GP6 EPS8L1 NCR1 LOC102724300 CDC42EP5 LAIR2 NLRP2 PPP1R12C LILRA1 LILRB1 KIR2DL1 LILRP2 LILRA2 RDH13 KIR3DL1 KIR3DL3 LOC101928804 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |