Hs04625529_cn

• Gene Symbol: STON1
• Assay Reference Genome Location: Chr.2:48554111 on build GRCh38
• Cytoband: 2p16.3

Target Gene Details

• Entrez Gene ID: 11037
• Gene Name: stonin 1
• Gene Aliases: SALF, SBLF, STN1, STNB1
• Location: Chr.2:48530169-48598515 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
STON1	NM_001198595.1			NP_001185524.1
	NM_006873.3			NP_006864.2
	AK314464.1
	CR936807.1
	DB288942.1

Target Gene Details

• Entrez Gene ID: 286749
• Gene Name: STON1-GTF2A1L readthrough
• Gene Aliases: SALF
• Location: Chr.2:48529925-48776517 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
STON1-GTF2A1L	NM_001198593.1			NP_001185522.1
	AK309740.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3590653	Chr.2:48543022 - 48554610 on Build GRCh38	Loss	STON1-GTF2A1L STON1
nsv1002793	Chr.2:48544081 - 49239411 on Build GRCh38	Gain	STON1-GTF2A1L STON1 GTF2A1L FSHR MIR548BA LHCGR
nsv833981	Chr.2:48478305 - 48651040 on Build GRCh38	Loss	PPP1R21 STON1-GTF2A1L STON1 GTF2A1L
esv2631205	Chr.2:48554103 - 48558672 on Build GRCh38	Deletion	STON1-GTF2A1L STON1
nsv1000419	Chr.2:48539818 - 48568188 on Build GRCh38	Loss	STON1-GTF2A1L STON1
nsv581776	Chr.2:48536243 - 48685880 on Build GRCh38	Loss	STON1-GTF2A1L STON1 GTF2A1L

More Information

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

Panther Classification:

Molecular Function -

membrane traffic protein

Gene Ontology Categories:

Process(es)

endocytosis
regulation of endocytosis