Product Details

Assay Reference Genome
Location

Chr.11:74459972 on build GRCh38
Cytoband
11q13.4
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
10008
Gene Symbol
KCNE3
Gene Name
potassium voltage-gated channel subfamily E regulatory subunit 3
Gene Aliases
HOKPP, HYPP, MiRP2
Location
Chr.11:74454841-74467729 on build GRCh38
Assay Gene Location
Within Intron 5
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
KCNE3 NM_005472.4 NP_005463.1
XM_011544713.2 XP_011543015.1
XM_017017047.1 XP_016872536.1
XM_017017048.1 XP_016872537.1
XM_017017049.1 XP_016872538.1
XM_017017050.1 XP_016872539.1
XM_017017051.1 XP_016872540.1
XM_017017052.1 XP_016872541.1
AF076531.1 AAD28089.1
AF302494.1 AAG16255.1
AK311876.1
BC110612.2 AAI10613.1
BC113743.1 AAI13744.1
CD709836.1
CR936625.1 CAI56768.1
DQ192291.1 ABB00304.1
DQ192292.1 ABB00305.1
DR006135.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv1041154 Chr11:74403756 - 74466864 on Build GRCh38 Loss KCNE3
esv34979 Chr11:74167643 - 74822407 on Build GRCh38 Gain RNF169 MIR548AL LIPT2 PPME1 C2CD3 CHRDL2 P4HA3 PGM2L1 LOC100287896 KCNE3 POLD3 LOC101928580 MIR4696
esv3626840 Chr11:74371082 - 74464389 on Build GRCh38 Gain MIR548AL PGM2L1 KCNE3
esv2759837 Chr11:74131564 - 74846552 on Build GRCh38 Gain RNF169 MIR548AL LIPT2 PPME1 C2CD3 CHRDL2 P4HA3 PGM2L1 LOC100287896 KCNE3 XRRA1 POLD3 LOC101928580 MIR4696
nsv555443 Chr11:74398121 - 74469444 on Build GRCh38 Loss MIR548AL PGM2L1 KCNE3
nsv832209 Chr11:74444838 - 74618074 on Build GRCh38 Gain LIPT2 LOC100287896 KCNE3 POLD3
dgv209e214 Chr11:74225600 - 74828943 on Build GRCh38 Gain P4HA3 RNF169 MIR548AL LIPT2 PGM2L1 LOC100287896 PPME1 KCNE3 POLD3 LOC101928580 MIR4696 CHRDL2
nsv393 Chr11:74424817 - 74470372 on Build GRCh38 Deletion KCNE3
nsv825994 Chr11:74225622 - 74823410 on Build GRCh38 Gain P4HA3 RNF169 MIR548AL LIPT2 PGM2L1 LOC100287896 PPME1 KCNE3 POLD3 LOC101928580 MIR4696 CHRDL2

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