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See other KCNQ2 CNV Assays ›
Gene Symbol
KCNQ2
Assay Reference Genome
Location

Chr.20:63406817 on build GRCh38
Cytoband
20q13.33
Assay ID Hs00120521_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 3785

Gene Name:

 potassium voltage-gated channel subfamily Q member 2

Gene Aliases:

 BFNC, EBN, EBN1, ENB1, HNSPC, KCNA11, KV7.2

Location:

 Chr.20:63400208-63472677 on Build GRCh38

Assay Gene Location:

 Within Exon 19
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
KCNQ2 NM_004518.5 15 2576 NP_004509.2
NM_172106.2 16 2606 NP_742104.1
NM_172107.3 17 2660 NP_742105.1
NM_172108.4 16 2567 NP_742106.1
XM_011528810.1 17 2626 XP_011527112.1
XM_011528811.1 16 2596 XP_011527113.1
XM_017027841.1 17 2623 XP_016883330.1
XM_017027842.1 16 2560 XP_016883331.1
XM_017027843.1 17 2519 XP_016883332.1
XM_017027844.1 16 2515 XP_016883333.1
XM_017027845.1 7 2066 XP_016883334.1
AF033348.1 17 2573 AAB97315.1
AF074247.1 16 2567 AAC25921.1
AF110020.1 16 2399 AAD16988.1
Y15065.1 15 2404 CAA75348.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv953306 Chr.20:63151949 - 63571247 on Build GRCh38 Deletion LOC102723788 LOC107985425 FLJ16779 PPDPF PTK6 COL20A1 ARFGAP1 BIRC7 SRMS NKAIN4 HELZ2 CHRNA4 MIR124-3 FNDC11 KCNQ2 MIR4326 LOC100130152 EEF1A2 MIR3196 LOC100130587 YTHDF1
nsv586565 Chr.20:63392922 - 63409602 on Build GRCh38 Loss KCNQ2 LOC100130152
nsv9825 Chr.20:62775470 - 63601330 on Build GRCh38 Gain LINC00659 LOC102723788 GID8 FLJ16779 PTK6 ARFGAP1 COL9A3 HAR1A NKAIN4 HELZ2 CHRNA4 LOC107985428 MRGBP LINC00029 KCNQ2 DPH3P1 LOC100130152 EEF1A2 SLC17A9 YTHDF1 DIDO1 GMEB2 LOC63930 LOC107985425 BHLHE23 PPDPF OGFR-AS1 COL20A1 BIRC7 TCFL5 SRMS LINC01056 MIR124-3 FNDC11 MIR4326 OGFR MIR3196 LOC100130587 HAR1B
nsv470562 Chr.20:63362590 - 63460989 on Build GRCh38 Loss CHRNA4 LOC102723788 KCNQ2 LOC100130152 LOC100130587

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