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See other CLN8 CNV Assays ›
Gene Symbol
CLN8
Assay Reference Genome
Location

Chr.8:1768925 on build GRCh38
Cytoband
8p23.3
Assay ID Hs06206571_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 2055

Gene Name:

 ceroid-lipofuscinosis, neuronal 8

Gene Aliases:

 C8orf61, EPMR

Location:

 Chr.8:1755778-1786570 on Build GRCh38

Assay Gene Location:

 Within Intron 2
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
CLN8 NM_018941.3 NP_061764.2
XM_005266021.3 XP_005266078.1
XM_005266022.1 XP_005266079.1
XM_005266023.1 XP_005266080.1
XM_011534745.1 XP_011533047.1
XM_011534746.2 XP_011533048.1
XM_011534747.1 XP_011533049.1
AF123757.1 AAF13115.1
AF123758.1 AAF13116.1
AF123759.1 AAF13117.1
AF123760.1 AAF13118.1
AF123761.1 AAF13119.1
AK312486.1
BC007725.2 AAH07725.1
DA193710.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv465274 Chr.8:1736898 - 1780126 on Build GRCh38 Loss CLN8 LOC101927752
nsv1024325 Chr.8:651043 - 3203837 on Build GRCh38 Gain LOC101927815 ARHGEF10 LOC105377777 MIR3674 LOC105377781 LOC100131395 KBTBD11 ERICH1-AS1 CLN8 ERICH1 LOC401442 MYOM2 LOC105377792 LOC101928058 CSMD1 DLGAP2 MIR7160 DLGAP2-AS1 KBTBD11-OT1 LOC286083 LOC101927752 LOC105377774 LOC105377776 MIR596
esv3891267 Chr.8:1755403 - 2343278 on Build GRCh38 Gain LOC101928058 ARHGEF10 MIR3674 LOC105377781 MIR7160 LOC100131395 KBTBD11-OT1 KBTBD11 CLN8 LOC101927752 MYOM2 MIR596
esv3615841 Chr.8:1705527 - 1822229 on Build GRCh38 Loss MIR3674 DLGAP2 CLN8 LOC101927752 MIR596
dgv11822n54 Chr.8:1748920 - 1829405 on Build GRCh38 Loss ARHGEF10 MIR3674 CLN8 LOC101927752 MIR596
nsv609527 Chr.8:1733567 - 1805331 on Build GRCh38 Loss MIR3674 CLN8 LOC101927752
esv3576504 Chr.8:951237 - 1906751 on Build GRCh38 Gain ARHGEF10 MIR3674 DLGAP2 DLGAP2-AS1 LOC286083 ERICH1-AS1 CLN8 LOC101927752 LOC105377776 MIR596
nsv609531 Chr.8:1768870 - 2267169 on Build GRCh38 Gain LOC101928058 ARHGEF10 MIR3674 LOC105377781 MIR7160 LOC100131395 KBTBD11-OT1 KBTBD11 CLN8 MYOM2 MIR596
nsv509244 Chr.8:1756513 - 1850704 on Build GRCh38 Insertion ARHGEF10 MIR3674 CLN8 LOC101927752 MIR596
nsv1025591 Chr.8:1755786 - 2335806 on Build GRCh38 Gain LOC101928058 ARHGEF10 MIR3674 LOC105377781 MIR7160 LOC100131395 KBTBD11-OT1 KBTBD11 CLN8 LOC101927752 MYOM2 MIR596
esv3615846 Chr.8:1735209 - 1816717 on Build GRCh38 Loss MIR3674 CLN8 LOC101927752

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