Assay Details
Target Gene Details
Entrez Gene ID: | 11079 |
Gene Name: | retention in endoplasmic reticulum sorting receptor 1 |
Gene Aliases: |
- |
Location: |
Chr.1:2391314-2405444 on Build GRCh38 |
Assay Gene Location: | Within Exon 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RER1 | NM_007033.4 | 7 | 742 | NP_008964.3 |
XM_005244713.4 | 7 | 1563 | XP_005244770.2 | |
XM_006710306.2 | 8 | 824 | XP_006710369.1 | |
XM_011540542.1 | 8 | 762 | XP_011538844.1 | |
XM_011540543.1 | 7 | 610 | XP_011538845.1 | |
XM_017000131.1 | 7 | 2093 | XP_016855620.1 | |
XM_017000132.1 | 8 | 852 | XP_016855621.1 | |
XM_017000133.1 | 8 | 935 | XP_016855622.1 | |
XM_017000134.1 | 9 | 849 | XP_016855623.1 | |
XM_017000135.1 | 7 | 849 | XP_016855624.1 | |
AF091071.1 | 7 | 736 | AAC72940.1 | |
AF157324.1 | 7 | 681 | AAF67490.1 | |
AJ001421.1 | 6 | 551 | CAA04754.1 | |
AK095750.1 | 6 | 2337 | ||
AK289658.1 | 7 | 676 | ||
BC004965.1 | 7 | 677 | AAH04965.1 | |
BT007224.1 | AAP35888.1 | |||
CR456806.1 | CAG33087.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv951557 | Chr.1:2266062 - 2564661 on Build GRCh38 | Deletion | HES5 MORN1 PANK4 TNFRSF14 RER1 SKI LOC100129534 LOC115110 PLCH2 PEX10 |
dgv50n54 | Chr.1:2401592 - 2518955 on Build GRCh38 | Loss | PANK4 RER1 PLCH2 PEX10 |
nsv1003233 | Chr.1:2348984 - 2404066 on Build GRCh38 | Gain | MORN1 RER1 LOC100129534 |
nsv823697 | Chr.1:2389693 - 2405919 on Build GRCh38 | Gain | MORN1 RER1 PEX10 |
nsv470684 | Chr.1:2394570 - 2930923 on Build GRCh38 | Loss | HES5 FAM213B TTC34 LOC100996583 PANK4 TNFRSF14 MMEL1 RER1 LOC115110 PLCH2 PEX10 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |