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 | 1228 | NP_008964.3 |
XM_005244713.4 | 7 | 2049 | XP_005244770.2 | |
XM_006710306.2 | 8 | 1310 | XP_006710369.1 | |
XM_011540542.1 | 8 | 1248 | XP_011538844.1 | |
XM_011540543.1 | 7 | 1096 | XP_011538845.1 | |
XM_017000131.1 | 7 | 2579 | XP_016855620.1 | |
XM_017000132.1 | 8 | 1338 | XP_016855621.1 | |
XM_017000133.1 | 8 | 1421 | XP_016855622.1 | |
XM_017000134.1 | 9 | 1335 | XP_016855623.1 | |
XM_017000135.1 | 7 | 1335 | XP_016855624.1 | |
AF091071.1 | 7 | 1222 | AAC72940.1 | |
AF157324.1 | 7 | 1167 | AAF67490.1 | |
AK289658.1 | ||||
BC004965.1 | 7 | 1163 | AAH04965.1 |
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 | RER1 PEX10 PLCH2 LOC100129534 PANK4 MORN1 LOC115110 TNFRSF14 SKI HES5 |
dgv50n54 | Chr.1:2401592 - 2518955 on Build GRCh38 | Loss | RER1 PEX10 PLCH2 PANK4 |
nsv823808 | Chr.1:2403141 - 2404395 on Build GRCh38 | Gain | RER1 |
nsv1003233 | Chr.1:2348984 - 2404066 on Build GRCh38 | Gain | RER1 LOC100129534 MORN1 |
nsv823697 | Chr.1:2389693 - 2405919 on Build GRCh38 | Gain | RER1 PEX10 MORN1 |
nsv470684 | Chr.1:2394570 - 2930923 on Build GRCh38 | Loss | RER1 PEX10 LOC100996583 MMEL1 PLCH2 FAM213B PANK4 LOC115110 TTC34 TNFRSF14 HES5 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |