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See other CATIP-AS2 CNV Assays ›
Gene Symbol
CATIP-AS2
Assay Reference Genome
Location

Chr.2:218346229 on build GRCh38
Cytoband
2q35
Assay ID Hs00592015_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 103689911

Gene Name:

 CATIP antisense RNA 2

Gene Aliases:

 -

Location:

 Chr.2:218326241-218357966 on Build GRCh38

Assay Gene Location:

 Within Intron 2
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
CATIP-AS2 NR_125777.1
CD672221.1

Target Gene Details

Entrez Gene ID:

 25953

Gene Name:

 paroxysmal nonkinesigenic dyskinesia

Gene Aliases:

 BRP17, DYT8, FKSG19, FPD1, KIPP1184, MR-1, MR1, PDC, PKND1, TAHCCP2

Location:

 Chr.2:218270392-218346793 on Build GRCh38

Assay Gene Location:

 Within Exon 12
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PNKD NM_015488.4 10 2550 NP_056303.3
NM_022572.4 9 2423 NP_072094.1
XM_017003771.1 9 2370 XP_016859260.1
XM_017003772.1 8 2361 XP_016859261.1
AB033010.1 10 2391 BAA86498.1
AL137675.1 8 3049 CAB70870.2
AY358680.1 1 333 AAQ89043.1
AY358753.1 9 2343 AAQ89113.1
BC002937.2 9 2334 AAH02937.1
BC036457.2 10 2452 AAH36457.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv519829 Chr.2:218286495 - 218403058 on Build GRCh38 Loss CATIP CTDSP1 MIR26B SLC11A1 CATIP-AS2 TMBIM1 CATIP-AS1 MIR6810 PNKD
esv3594336 Chr.2:218316567 - 218347668 on Build GRCh38 Gain CATIP-AS2 MIR6810 PNKD

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More Information


Additional Information:

For this assay, SNP(s) [rs76752438] 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 Intronic Non-exonic DGV Variation

Gene Ontology Categories:

Function(s) Process(es)


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