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Gene Symbol
COMT
Assay Reference Genome
Location

Chr.22:19962375 on build GRCh38
Cytoband
22q11.21
Assay ID Hs04084041_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:

 Within Exon 7
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
XM_011529886.1 XP_011528188.1
XM_017028594.1 3 322 XP_016884083.1
XM_017028595.1 3 266 XP_016884084.1
AK130031.1
AK290440.1
BC000419.2 AAH00419.2
BC005867.2 AAH05867.1
BC011935.2 AAH11935.1
BC100018.1 AAI00019.1
BE386545.1
BE728779.1
BX461394.2
CR456422.1 CAG30308.1
EF103916.1
EF103917.1 2 172
EF103918.1
EF103920.1
EF103921.1
EF103922.1
FJ224345.1
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 MIR4761 COMT ARVCF
esv3584493 Chr.22:19954404 - 19991035 on Build GRCh38 Gain MIR4761 COMT ARVCF
nsv953026 Chr.22:19950978 - 20070877 on Build GRCh38 Deletion MIR4761 COMT ARVCF MIR185 TANGO2
nsv1055752 Chr.22:19960814 - 20013499 on Build GRCh38 Gain MIR4761 COMT ARVCF
esv3893434 Chr.22:19470889 - 20343372 on Build GRCh38 Gain DGCR6L MIR4761 LINC00895 LINC00896 CDC45 MIR185 C22orf29 GP1BB TANGO2 LOC101927859 MIR1306 GNB1L TXNRD2 CLDN5 TBX1 MIR3618 LOC284865 TRMT2A LOC440792 RANBP1 MIR6816 UFD1L SEPT5-GP1BB MIR1286 COMT ARVCF CCDC188 ZDHHC8 SEPT5 RTN4R DGCR8
nsv828939 Chr.22:19696032 - 20324465 on Build GRCh38 Loss DGCR6L MIR4761 LINC00896 MIR185 C22orf29 GP1BB TANGO2 MIR1306 GNB1L TXNRD2 TBX1 MIR3618 LOC284865 TRMT2A LOC440792 RANBP1 MIR6816 SEPT5-GP1BB MIR1286 COMT ARVCF CCDC188 ZDHHC8 SEPT5 RTN4R DGCR8
nsv828938 Chr.22:19691069 - 20324465 on Build GRCh38 Gain DGCR6L MIR4761 LINC00896 MIR185 C22orf29 GP1BB TANGO2 MIR1306 GNB1L TXNRD2 TBX1 MIR3618 LOC284865 TRMT2A LOC440792 RANBP1 MIR6816 SEPT5-GP1BB MIR1286 COMT ARVCF CCDC188 ZDHHC8 SEPT5 RTN4R DGCR8
esv3647280 Chr.22:19901541 - 19962814 on Build GRCh38 Gain COMT TXNRD2
nsv469641 Chr.22:19891662 - 20067735 on Build GRCh38 Loss MIR4761 COMT TXNRD2 ARVCF MIR185 TANGO2
dgv72n68 Chr.22:19891663 - 20082447 on Build GRCh38 Loss MIR4761 COMT TXNRD2 ARVCF MIR185 TANGO2 DGCR8
dgv7983n54 Chr.22:19762002 - 20321870 on Build GRCh38 Gain DGCR6L MIR4761 LINC00896 TBX1 MIR3618 LOC284865 TRMT2A LOC440792 RANBP1 MIR6816 MIR185 C22orf29 TANGO2 MIR1306 GNB1L MIR1286 COMT TXNRD2 ARVCF CCDC188 ZDHHC8 RTN4R DGCR8
esv3575418 Chr.22:18161776 - 19963846 on Build GRCh38 Gain LOC100996401 MIR4761 TSSK2 LINC00895 CDC45 PI4KAP1 C22orf29 GP1BB MRPL40 GNB1L DGCR14 DGCR11 TXNRD2 DGCR9 CLTCL1 LOC642643 CLDN5 HIRA C22orf39 PRODH TBX1 DGCR6 GGT3P TMEM191B GSC2 DGCR10 DGCR2 LOC100996415 LINC01311 FAM230A UFD1L LOC100996432 SEPT5-GP1BB DGCR5 SLC25A1 COMT RIMBP3 USP18 LOC729461 SEPT5 LOC102725072

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