Assay Details
Target Gene Details
Entrez Gene ID: | 5192 |
Gene Name: | peroxisomal biogenesis factor 10 |
Gene Aliases: |
NALD, PBD6A, PBD6B, RNF69 |
Location: |
Chr.1:2404802-2412622 on Build GRCh38 |
Assay Gene Location: | Within Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PEX10 | NM_002617.3 | 6 | 1503 | NP_002608.1 |
NM_153818.1 | 6 | 1563 | NP_722540.1 | |
XM_011541573.1 | 6 | 1611 | XP_011539875.1 | |
AB013818.1 | 6 | 1503 | BAA87895.1 | |
AK124816.1 | 6 | 1481 | ||
BC000543.2 | 6 | 1522 | AAH00543.1 | |
BC018198.1 | 6 | 1485 | AAH18198.1 |
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 | 2971 | NP_008964.3 |
XM_005244713.4 | 7 | 3792 | XP_005244770.2 | |
XM_006710306.2 | 8 | 3053 | XP_006710369.1 | |
XM_011540542.1 | 8 | 2991 | XP_011538844.1 | |
XM_011540543.1 | 7 | 2839 | XP_011538845.1 | |
XM_017000131.1 | 7 | 4322 | XP_016855620.1 | |
XM_017000132.1 | 8 | 3081 | XP_016855621.1 | |
XM_017000133.1 | 8 | 3164 | XP_016855622.1 | |
XM_017000134.1 | 9 | 3078 | XP_016855623.1 | |
XM_017000135.1 | 7 | 3078 | XP_016855624.1 | |
BM682824.1 | 1 | 148 |
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 | LOC115110 TNFRSF14 MORN1 PEX10 PANK4 LOC100129534 HES5 PLCH2 RER1 SKI |
dgv50n54 | Chr.1:2401592 - 2518955 on Build GRCh38 | Loss | PEX10 PANK4 PLCH2 RER1 |
nsv823697 | Chr.1:2389693 - 2405919 on Build GRCh38 | Gain | MORN1 PEX10 RER1 |
nsv470684 | Chr.1:2394570 - 2930923 on Build GRCh38 | Loss | LOC115110 TNFRSF14 MMEL1 PEX10 PANK4 FAM213B HES5 TTC34 PLCH2 LOC100996583 RER1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |