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Gene Symbol
COMT
Assay Reference Genome
Location

Chr.22:19964186 on build GRCh38
Cytoband
22q11.21
Assay ID Hs01482169_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 1312

Gene Name:

 catechol-O-methyltransferase

Gene Aliases:

 HEL-S-98n

Location:

 Chr.22:19941740-19969975 on Build GRCh38

Assay Gene Location:

 Overlaps Intron 8 - Exon 9
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
COMT NM_000754.3 NP_000745.1
NM_001135161.1 NP_001128633.1
NM_001135162.1 NP_001128634.1
NM_007310.2 NP_009294.1
XM_011529886.1 XP_011528188.1
XM_017028594.1 XP_016884083.1
XM_017028595.1 XP_016884084.1
AK130031.1
AK290440.1
BC000419.2 AAH00419.2
BC005867.2 AAH05867.1
BC011935.2 AAH11935.1
BC100018.1 AAI00019.1
BX461394.2
CR456422.1 CAG30308.1
CR456997.1 CAG33278.1
EF103918.1
EF103920.1
EF103921.1
EF103922.1
EF212883.1
EF217321.1
EF217322.1
FJ224345.1
FJ410131.1
FJ410132.1
M58525.1 AAA68929.1
M65212.1 AAA68927.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv3568271 Chr.22:19962193 - 19966868 on Build GRCh38 Loss COMT MIR4761 ARVCF
esv3584493 Chr.22:19954404 - 19991035 on Build GRCh38 Gain COMT MIR4761 ARVCF
nsv1055752 Chr.22:19960814 - 20013499 on Build GRCh38 Gain COMT MIR4761 ARVCF
esv3893434 Chr.22:19470889 - 20343372 on Build GRCh38 Gain MIR1286 UFD1L MIR185 LOC440792 GNB1L LOC284865 MIR4761 GP1BB MIR6816 TRMT2A C22orf29 TANGO2 COMT LINC00896 TXNRD2 RANBP1 CLDN5 CDC45 ZDHHC8 TBX1 SEPT5 SEPT5-GP1BB ARVCF RTN4R DGCR6L DGCR8 CCDC188 LINC00895 MIR3618 LOC101927859 MIR1306
nsv828938 Chr.22:19691069 - 20324465 on Build GRCh38 Gain MIR1286 MIR185 LOC440792 GNB1L LOC284865 MIR4761 GP1BB MIR6816 TRMT2A C22orf29 TANGO2 COMT LINC00896 TXNRD2 RANBP1 ZDHHC8 TBX1 SEPT5 SEPT5-GP1BB ARVCF RTN4R DGCR6L DGCR8 CCDC188 MIR3618 MIR1306
nsv469641 Chr.22:19891662 - 20067735 on Build GRCh38 Loss MIR185 TANGO2 COMT TXNRD2 MIR4761 ARVCF
dgv72n68 Chr.22:19891663 - 20082447 on Build GRCh38 Loss MIR185 DGCR8 TANGO2 COMT TXNRD2 MIR4761 ARVCF
dgv7983n54 Chr.22:19762002 - 20321870 on Build GRCh38 Gain MIR1286 MIR185 LOC440792 GNB1L ZDHHC8 LOC284865 MIR4761 MIR6816 TBX1 TRMT2A ARVCF C22orf29 RTN4R DGCR6L DGCR8 TANGO2 CCDC188 MIR3618 COMT LINC00896 TXNRD2 RANBP1 MIR1306
nsv953026 Chr.22:19950978 - 20070877 on Build GRCh38 Deletion MIR185 TANGO2 COMT MIR4761 ARVCF
nsv828939 Chr.22:19696032 - 20324465 on Build GRCh38 Loss MIR1286 MIR185 LOC440792 GNB1L LOC284865 MIR4761 GP1BB MIR6816 TRMT2A C22orf29 TANGO2 COMT LINC00896 TXNRD2 RANBP1 ZDHHC8 TBX1 SEPT5 SEPT5-GP1BB ARVCF RTN4R DGCR6L DGCR8 CCDC188 MIR3618 MIR1306
nsv588240 Chr.22:19962740 - 19965038 on Build GRCh38 Loss COMT MIR4761
nsv517165 Chr.22:19962905 - 19999679 on Build GRCh38 Loss COMT MIR4761 ARVCF
esv3568270 Chr.22:19963847 - 19966728 on Build GRCh38 Loss COMT ARVCF

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