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 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PEX10 | NM_002617.3 | 3 | 622 | NP_002608.1 |
NM_153818.1 | 3 | 622 | NP_722540.1 | |
XM_011541573.1 | 3 | 673 | XP_011539875.1 | |
XM_011541576.1 | 3 | 673 | XP_011539878.1 | |
AB013818.1 | 3 | 622 | BAA87895.1 | |
AF060502.1 | 3 | 585 | AAC18133.1 | |
AK124816.1 | 3 | 600 | ||
BC000543.2 | 3 | 581 | AAH00543.1 | |
BC018198.1 | 3 | 604 | AAH18198.1 | |
CR542077.1 | 3 | 553 | CAG46874.1 | |
DA439481.1 |
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 LOC115110 TNFRSF14 PEX10 MORN1 SKI PLCH2 RER1 LOC100129534 PANK4 |
dgv50n54 | Chr.1:2401592 - 2518955 on Build GRCh38 | Loss | PEX10 PLCH2 RER1 PANK4 |
nsv470684 | Chr.1:2394570 - 2930923 on Build GRCh38 | Loss | HES5 LOC115110 LOC100996583 TTC34 TNFRSF14 PEX10 FAM213B MMEL1 PLCH2 RER1 PANK4 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |