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

Chr.22:19968684 on build GRCh38
Cytoband
22q11.21
Assay ID Hs02325796_cn
Size
Availability Made To Order
Catalog # 4400291
Price 4,505.00
Your Price
Online offer:
4505.0
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Assay Details

Target Gene Details

Entrez Gene ID:

 421

Gene Name:

 armadillo repeat gene deleted in velocardiofacial syndrome

Gene Aliases:

 -

Location:

 Chr.22:19966491-20016802 on Build GRCh38

Assay Gene Location:

 Within Intron 24
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
ARVCF XM_005261242.2 XP_005261299.1
XM_006724243.2 XP_006724306.1
XM_006724246.3 XP_006724309.1
XM_011530179.2 XP_011528481.1
XM_011530182.2 XP_011528484.1
AL390148.1 1 1252

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 10
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
COMT NM_000754.3 6 1013 NP_000745.1
NM_001135161.1 6 971 NP_001128633.1
NM_001135162.1 6 988 NP_001128634.1
NM_007310.2 4 744 NP_009294.1
XM_011529886.1 6 918 XP_011528188.1
XM_017028594.1 6 1237 XP_016884083.1
XM_017028595.1 6 1181 XP_016884084.1
AK130031.1 7 793
AK290440.1 6 951
BC000419.2 6 941 AAH00419.2
BC005867.2 6 941 AAH05867.1
BC011935.2 5 856 AAH11935.1
BC100018.1 6 1003 AAI00019.1
CR456422.1 5 779 CAG30308.1
CR456997.1 4 764 CAG33278.1
EF103918.1 4 505
EF212883.1
EF217321.1 2 88
EF217322.1 2 115
FJ224345.1 6 941
FJ410131.1 4 614
FJ410132.1 4 764
M58525.1 6 968 AAA68929.1
M65212.1 5 842 AAA68927.1
M65213.1 AAA68928.1

Target Copy Number Variation Details

DGV Version:

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

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