Product Details

Assay Reference Genome
Location

Chr.X:18657722 on build GRCh38
Cytoband
Xp22.13
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

For this assay, SNP(s) [rs202119131] 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
6247
Gene Symbol
RS1
Gene Name
retinoschisin 1
Gene Aliases
RS, XLRS1
Location
Chr.X:18639688-18672103 on build GRCh38
Assay Gene Location
Overlaps Intron 1 - Exon 2
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
RS1 NM_000330.3 NP_000321.1
AF014459.1 AAC17928.1
BQ636812.1
DQ426892.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv528654 ChrX:18627439 - 18660570 on Build GRCh38 Gain CDKL5 RS1

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