Product Details

Assay Reference Genome
Location

Chr.8:1775938 on build GRCh38
Cytoband
8p23.3
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
2055
Gene Symbol
CLN8
Gene Name
ceroid-lipofuscinosis, neuronal 8
Gene Aliases
C8orf61, EPMR
Location
Chr.8:1755778-1786570 on build GRCh38
Assay Gene Location
Within Intron 4
Gene Symbol Transcript Accession Exon Location Assay 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
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
BT007049.1 AAP35698.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv465274 Chr8:1736898 - 1780126 on Build GRCh38 Loss LOC101927752 CLN8
nsv1024325 Chr8:651043 - 3203837 on Build GRCh38 Gain LOC100131395 DLGAP2 LOC401442 MIR3674 LOC105377792 MIR7160 DLGAP2-AS1 KBTBD11 ARHGEF10 LOC105377781 MYOM2 CLN8 LOC101927815 LOC286083 CSMD1 LOC101928058 MIR596 LOC105377777 LOC101927752 ERICH1 LOC105377776 ERICH1-AS1 KBTBD11-OT1 LOC105377774
esv3891267 Chr8:1755403 - 2343278 on Build GRCh38 Gain LOC100131395 MIR596 LOC101927752 MIR3674 MIR7160 KBTBD11 ARHGEF10 LOC105377781 MYOM2 CLN8 KBTBD11-OT1 LOC101928058
esv3615841 Chr8:1705527 - 1822229 on Build GRCh38 Loss MIR596 DLGAP2 LOC101927752 MIR3674 CLN8
dgv11822n54 Chr8:1748920 - 1829405 on Build GRCh38 Loss MIR596 LOC101927752 MIR3674 ARHGEF10 CLN8
nsv609527 Chr8:1733567 - 1805331 on Build GRCh38 Loss LOC101927752 MIR3674 CLN8
esv3576504 Chr8:951237 - 1906751 on Build GRCh38 Gain MIR596 DLGAP2 LOC101927752 LOC105377776 MIR3674 DLGAP2-AS1 ERICH1-AS1 ARHGEF10 CLN8 LOC286083
nsv609531 Chr8:1768870 - 2267169 on Build GRCh38 Gain LOC100131395 MIR596 MIR3674 MIR7160 KBTBD11 ARHGEF10 LOC105377781 MYOM2 CLN8 KBTBD11-OT1 LOC101928058
nsv509244 Chr8:1756513 - 1850704 on Build GRCh38 Insertion MIR596 LOC101927752 MIR3674 ARHGEF10 CLN8
nsv1025591 Chr8:1755786 - 2335806 on Build GRCh38 Gain LOC100131395 MIR596 LOC101927752 MIR3674 MIR7160 KBTBD11 ARHGEF10 LOC105377781 MYOM2 CLN8 KBTBD11-OT1 LOC101928058
esv3615846 Chr8:1735209 - 1816717 on Build GRCh38 Loss LOC101927752 MIR3674 CLN8

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