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

Chr.22:19970528 on build GRCh38
Cytoband
22q11.21
Assay ID Hs00501898_cn
Size
Availability Made To Order
Catalog # 4400291
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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 Exon 24
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
ARVCF NM_001670.2 20 3387 NP_001661.1
XM_005261242.2 XP_005261299.1
XM_005261243.3 19 3385 XP_005261300.1
XM_005261244.3 18 3265 XP_005261301.1
XM_006724243.2 XP_006724306.1
XM_006724245.2 19 3283 XP_006724308.1
XM_006724246.3 XP_006724309.1
XM_006724247.3 18 3047 XP_006724310.1
XM_006724248.3 17 3028 XP_006724311.1
XM_011530179.2 XP_011528481.1
XM_011530182.2 XP_011528484.1
XM_011530183.2 12 2247 XP_011528485.1
AK092664.1 12 1714 BAC03941.1
BC137436.1
U51269.1 20 3388 AAC51202.1

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

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More Information


Additional Information:

For this assay, SNP(s) [rs73150820] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Set Membership:

 Intragenic Exonic DGV Variation

Panther Classification:

Gene Ontology Categories:

Function(s) Process(es)


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