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See other PEX10 CNV Assays ›
Gene Symbol
PEX10
Assay Reference Genome
Location

Chr.1:2405182 on build GRCh38
Cytoband
1p36.32
Assay ID Hs01383885_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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  • Genomic Map
  • Assay Details
  • More Information

Genomic Map

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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 1634 NP_002608.1
NM_153818.1 6 1694 NP_722540.1
XM_011541573.1 6 1742 XP_011539875.1
AB013818.1 6 1634 BAA87895.1
AK124816.1 6 1612
BC000543.2 6 1653 AAH00543.1
BC018198.1 6 1616 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 2840 NP_008964.3
XM_005244713.4 7 3661 XP_005244770.2
XM_006710306.2 8 2922 XP_006710369.1
XM_011540542.1 8 2860 XP_011538844.1
XM_011540543.1 7 2708 XP_011538845.1
XM_017000131.1 7 4191 XP_016855620.1
XM_017000132.1 8 2950 XP_016855621.1
XM_017000133.1 8 3033 XP_016855622.1
XM_017000134.1 9 2947 XP_016855623.1
XM_017000135.1 7 2947 XP_016855624.1
BM682824.1 1 279

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 MORN1 LOC115110 HES5 PEX10 TNFRSF14 PANK4 RER1 PLCH2 LOC100129534 SKI
dgv50n54 Chr.1:2401592 - 2518955 on Build GRCh38 Loss PEX10 PANK4 RER1 PLCH2
nsv823697 Chr.1:2389693 - 2405919 on Build GRCh38 Gain MORN1 PEX10 RER1
nsv470684 Chr.1:2394570 - 2930923 on Build GRCh38 Loss LOC100996583 LOC115110 HES5 PEX10 TTC34 TNFRSF14 PANK4 RER1 PLCH2 FAM213B MMEL1

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More Information


Set Membership:

Intragenic Exonic DGV Variation

Panther Classification:

Molecular Function -

chaperone

Gene Ontology Categories:

Function(s) Process(es)

peroxisome organization
protein import into peroxisome matrix
retrograde vesicle-mediated transport, Golgi to ER
skeletal muscle acetylcholine-gated channel clustering
positive regulation of establishment of protein localization to plasma membrane
protein binding
zinc ion binding
molecular_function
acetylcholine receptor binding

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