Product Details

Assay Reference Genome Location: Chr.X:18665241 on build GRCh38
Cytoband: Xp22.13
Species: Homo sapiens
Variation Type: Copy Number

Additional Information

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: Within Intron 1

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
esv33517	ChrX:18661048 - 19128069 on Build GRCh38	Loss	PPEF1 PHKA2-AS1 PHKA2 PPEF1-AS1 RS1 LOC101928415 ADGRG2

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