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 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PEX10 | NM_002617.3 | NP_002608.1 | ||
NM_153818.1 | NP_722540.1 | |||
XM_011541573.1 | 1 | 70 | XP_011539875.1 | |
XM_011541576.1 | 1 | 70 | XP_011539878.1 | |
AB013818.1 | BAA87895.1 | |||
AF060502.1 | AAC18133.1 | |||
AK124816.1 | ||||
BC000543.2 | AAH00543.1 | |||
BC018198.1 | AAH18198.1 | |||
DA439481.1 |
Target Gene Details
Entrez Gene ID: | 9651 |
Gene Name: | phospholipase C eta 2 |
Gene Aliases: |
PLC-L4, PLC-eta2, PLCL4, PLCeta2 |
Location: |
Chr.1:2412481-2505530 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PLCH2 | XM_017002870.1 | 1 | 73 | XP_016858359.1 |
XM_017002872.1 | 1 | 73 | XP_016858361.1 | |
XM_017002873.1 | 1 | 73 | XP_016858362.1 | |
XM_017002874.1 | 1 | 73 | XP_016858363.1 |
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 | TNFRSF14 LOC100129534 PANK4 SKI LOC115110 HES5 MORN1 PEX10 RER1 PLCH2 |
dgv50n54 | Chr.1:2401592 - 2518955 on Build GRCh38 | Loss | PANK4 PEX10 RER1 PLCH2 |
nsv470684 | Chr.1:2394570 - 2930923 on Build GRCh38 | Loss | MMEL1 TTC34 TNFRSF14 PANK4 LOC115110 FAM213B HES5 PEX10 RER1 LOC100996583 PLCH2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |