Product Details

Assay Reference Genome
Location

Chr.1:237075124 on build GRCh38
Cytoband
1q43
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

For this assay, SNP(s) [rs114660948] 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
6262
Gene Symbol
RYR2
Gene Name
ryanodine receptor 2
Gene Aliases
ARVC2, ARVD2, RYR-2, RyR, VTSIP
Location
Chr.1:237042208-237833988 on build GRCh38
Assay Gene Location
Within Intron 1
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
RYR2 NM_001035.2 NP_001026.2
XM_006711802.3 XP_006711865.1
XM_006711803.3 XP_006711866.1
XM_006711804.3 XP_006711867.1
XM_006711805.3 XP_006711868.1
XM_006711806.3 XP_006711869.1
XM_006711807.3 XP_006711870.1
XM_006711808.3 XP_006711871.1
XM_006711809.3 XP_006711872.1
XM_006711810.3 XP_006711873.1
XM_017002028.1 XP_016857517.1
X98330.1 CAA66975.1
Y08218.1 CAA69395.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation
Location CNV
Subtype
Genes
nsv1013771 Chr1:237064443 - 237163179 on Build GRCh38 Loss RYR2
nsv1000707 Chr1:237019112 - 237359712 on Build GRCh38 Gain RYR2
nsv954001 Chr1:237070201 - 237076200 on Build GRCh38 Deletion RYR2

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