Product Details

Assay Reference Genome
Location

Chr.3:15451460 on build GRCh38
Cytoband
3p25.1
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
8292
Gene Symbol
COLQ
Gene Name
collagen like tail subunit of asymmetric acetylcholinesterase
Gene Aliases
CMS5, EAD
Location
Chr.3:15450133-15521751 on build GRCh38
Assay Gene Location
Within Exon 18
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
COLQ NM_005677.3 17 1678 NP_005668.2
NM_080538.2 17 1807 NP_536799.1
NM_080539.3 16 1576 NP_536800.2
AF057036.1 17 1678 AAC39927.1
AJ225895.1 17 1674 CAA12648.1
AK128401.1 17 1807
AK289688.1 17 1697
AY150334.1 AAO06814.1
AY150335.1 AAO06815.1
AY150336.1 AAO06816.1
AY150337.1 AAO06817.1
AY150338.1 AAO06818.1
AY150339.1 AAO06819.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv834622 Chr3:15397807 - 15587083 on Build GRCh38 Gain MIR4270 HACL1 COLQ METTL6 EAF1
nsv834621 Chr3:15324275 - 15509456 on Build GRCh38 Gain MIR4270 SH3BP5 COLQ METTL6 EAF1

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