Hs04559619_cn

• Gene Symbol: SAG
• Assay Reference Genome Location: Chr.2:233312794 on build GRCh38
• Cytoband: 2q37.1

Target Gene Details

• Entrez Gene ID: 6295
• Gene Name: S-antigen visual arrestin
• Gene Aliases: RP47, S-AG
• Location: Chr.2:233307663-233347066 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SAG	NM_000541.4			NP_000532.2
	XM_017004641.1			XP_016860130.1
	XM_017004642.1			XP_016860131.1
	XM_017004643.1			XP_016860132.1
	AA317634.1
	BQ639460.1
	BX491422.1
	BX641043.1			CAE46025.1
	BX647821.1
	BX647827.1
	DQ980618.1
	DQ980619.1
	DQ980620.1
	X12453.1			CAA30983.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv584699	Chr.2:233273594 - 233346901 on Build GRCh38	Gain	SCARNA6 SCARNA5 ATG16L1 SAG
nsv584700	Chr.2:233290755 - 233455780 on Build GRCh38	Gain	DGKD ATG16L1 SAG
esv3594673	Chr.2:233310733 - 233317126 on Build GRCh38	Loss	SAG
esv2678091	Chr.2:233310767 - 233317122 on Build GRCh38	Deletion	SAG

More Information

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

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

cell surface receptor signaling pathway
visual perception
rhodopsin mediated signaling pathway
regulation of rhodopsin mediated signaling pathway
negative regulation of catalytic activity

Function(s)

opsin binding
protein phosphatase inhibitor activity
phosphoprotein binding