Product Details

Assay Reference Genome
Location

Chr.3:15458391 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 Intron 13
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
COLQ NM_005677.3 NP_005668.2
NM_080538.2 NP_536799.1
NM_080539.3 NP_536800.2
AF057036.1 AAC39927.1
AJ225895.1 CAA12648.1
AK128401.1
AK289688.1
AY150334.1 AAO06814.1
AY150335.1 AAO06815.1
AY150336.1 AAO06816.1
AY150337.1 AAO06817.1
AY150338.1 AAO06818.1
AY150339.1 AAO06819.1
BC074828.2 AAH74828.1
BC074829.2 AAH74829.1

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 COLQ EAF1 MIR4270 HACL1 METTL6
nsv834621 Chr3:15324275 - 15509456 on Build GRCh38 Gain COLQ EAF1 MIR4270 METTL6 SH3BP5

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