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

Chr.22:19963315 on build GRCh38
Cytoband
22q11.21
Assay ID Hs04080589_cn
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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 Intron 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
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
BE386545.1
BE728779.1
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 ARVCF COMT MIR4761
esv3584493 Chr.22:19954404 - 19991035 on Build GRCh38 Gain ARVCF COMT MIR4761
nsv1055752 Chr.22:19960814 - 20013499 on Build GRCh38 Gain ARVCF COMT MIR4761
esv3893434 Chr.22:19470889 - 20343372 on Build GRCh38 Gain MIR6816 DGCR6L LINC00895 MIR1306 TRMT2A COMT CLDN5 LOC284865 CCDC188 MIR4761 GNB1L MIR3618 SEPT5 LOC440792 DGCR8 UFD1L MIR185 C22orf29 LINC00896 MIR1286 RANBP1 SEPT5-GP1BB ARVCF RTN4R ZDHHC8 TANGO2 TBX1 CDC45 GP1BB LOC101927859 TXNRD2
nsv828938 Chr.22:19691069 - 20324465 on Build GRCh38 Gain MIR6816 DGCR6L MIR1306 TRMT2A COMT LOC284865 CCDC188 MIR4761 GNB1L MIR3618 SEPT5 LOC440792 DGCR8 MIR185 C22orf29 LINC00896 MIR1286 RANBP1 SEPT5-GP1BB ARVCF RTN4R ZDHHC8 TANGO2 TBX1 GP1BB TXNRD2
nsv469641 Chr.22:19891662 - 20067735 on Build GRCh38 Loss ARVCF MIR185 COMT MIR4761 TANGO2 TXNRD2
dgv72n68 Chr.22:19891663 - 20082447 on Build GRCh38 Loss ARVCF MIR185 COMT MIR4761 TANGO2 DGCR8 TXNRD2
dgv7983n54 Chr.22:19762002 - 20321870 on Build GRCh38 Gain MIR6816 DGCR6L MIR185 MIR1306 TRMT2A C22orf29 COMT LINC00896 LOC284865 MIR1286 RANBP1 ARVCF CCDC188 RTN4R ZDHHC8 MIR4761 TANGO2 TBX1 GNB1L MIR3618 LOC440792 DGCR8 TXNRD2
nsv953026 Chr.22:19950978 - 20070877 on Build GRCh38 Deletion ARVCF MIR185 COMT MIR4761 TANGO2
nsv828939 Chr.22:19696032 - 20324465 on Build GRCh38 Loss MIR6816 DGCR6L MIR1306 TRMT2A COMT LOC284865 CCDC188 MIR4761 GNB1L MIR3618 SEPT5 LOC440792 DGCR8 MIR185 C22orf29 LINC00896 MIR1286 RANBP1 SEPT5-GP1BB ARVCF RTN4R ZDHHC8 TANGO2 TBX1 GP1BB TXNRD2
nsv588240 Chr.22:19962740 - 19965038 on Build GRCh38 Loss COMT MIR4761
nsv517165 Chr.22:19962905 - 19999679 on Build GRCh38 Loss ARVCF COMT MIR4761
esv3575418 Chr.22:18161776 - 19963846 on Build GRCh38 Gain PI4KAP1 LINC00895 CLTCL1 COMT USP18 HIRA CLDN5 LINC01311 MRPL40 LOC100996401 MIR4761 FAM230A GNB1L DGCR14 SEPT5 DGCR2 TMEM191B GSC2 UFD1L DGCR5 C22orf29 DGCR6 LOC100996415 DGCR9 GGT3P SEPT5-GP1BB SLC25A1 LOC100996432 TBX1 TSSK2 PRODH CDC45 GP1BB LOC102725072 LOC729461 LOC642643 C22orf39 RIMBP3 DGCR10 DGCR11 TXNRD2

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