Product Details

Assay Reference Genome
Location

Chr.19:18789475 on build GRCh38
Cytoband
19p13.11
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

For this assay, SNP(s) [rs111940649] 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.

Target Gene Details

Entrez Gene ID
1311
Gene Symbol
COMP
Gene Name
cartilage oligomeric matrix protein
Gene Aliases
EDM1, EPD1, MED, PSACH, THBS5, TSP5
Location
Chr.19:18782773-18791305 on build GRCh38
Assay Gene Location
Within Intron 4
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
COMP NM_000095.2 NP_000086.2
AB086984.1 BAC53888.1
AK074508.1 BAC11031.1
AK223216.1 BAD96936.1
AK290595.1
AK296586.1
AK297798.1
AK297814.1
AU120397.1
BC110847.1 AAI10848.1
BC125092.1
L32137.1 AAA57253.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv3643845 Chr19:18786208 - 18791888 on Build GRCh38 Loss COMP
nsv1151217 Chr19:18627369 - 19284914 on Build GRCh38 Deletion CRTC1 HAPLN4 SUGP1 TMEM161A CERS1 LOC102724360 SLC25A42 BORCS8-MEF2B NR2C2AP TM6SF2 ARMC6 NCAN HOMER3 DDX49 RFXANK GDF1 COMP KLHL26 COPE SUGP2 BORCS8 MEF2B UPF1
nsv952422 Chr19:18606691 - 18807891 on Build GRCh38 Deletion CRTC1 TMEM59L CRLF1 COMP KLHL26
nsv833777 Chr19:18765126 - 18920267 on Build GRCh38 Loss CRTC1 DDX49 GDF1 COMP COPE CERS1 UPF1

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