Hs04123736_cn

• Gene Symbol: RS1
• Assay Reference Genome Location: Chr.X:18668219 on build GRCh38
• Cytoband: Xp22.13

Target Gene Details

• Entrez Gene ID: 6247
• 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 Transcript 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	Chr.X:18661048 - 19128069 on Build GRCh38	Loss	PHKA2-AS1 ADGRG2 PHKA2 LOC101928415 PPEF1-AS1 PPEF1 RS1

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

oxidoreductase

Gene Ontology Categories:

Process(es)

cell adhesion
multicellular organism development
visual perception
retina layer formation
adaptation of rhodopsin mediated signaling

Function(s)

phosphatidylserine binding
phosphatidylinositol-4,5-bisphosphate binding
phosphatidylinositol-3,4,5-trisphosphate binding
phosphatidylinositol-5-phosphate binding
phosphatidylinositol-3-phosphate binding
phosphatidylinositol-3,4-bisphosphate binding
phosphatidylinositol-4-phosphate binding
phosphatidylinositol-3,5-bisphosphate binding