Product Details

Assay Reference Genome
Location

Chr.8:1782516 on build GRCh38
Cytoband
8p23.3
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

For this assay, SNP(s) [rs73541034,rs78155116] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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 Exon 5
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
CLN8 NM_018941.3 3 3115 NP_061764.2
AF123759.1 3 3044 AAF13117.1
AF123760.1 3 3044 AAF13118.1
AF123761.1 3 3044 AAF13119.1

Target Copy Number Variation Details

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

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