Hs00280885_cn

• Gene Symbol: JSRP1
• Assay Reference Genome Location: Chr.19:2253669 on build GRCh38
• Cytoband: 19p13.3

Target Gene Details

• Entrez Gene ID: 126306
• Gene Name: junctional sarcoplasmic reticulum protein 1
• Gene Aliases: JP-45, JP45
• Location: Chr.19:2252251-2260813 on Build GRCh38
• Assay Gene Location: Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
JSRP1	NM_144616.3	5	458	NP_653217.1
	XM_017026285.1	5	852	XP_016881774.1
	XM_017026286.1	5	852	XP_016881775.1
	XM_017026287.1	5	434	XP_016881776.1
	AK056978.1	5	452	BAB71330.1
	BC021201.2	4	422	AAH21201.1
	DA897543.1	5	459
	DA898560.1	4	432

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv578382	Chr.19:2194897 - 2260362 on Build GRCh38	Loss	MIR1227 SF3A2 DOT1L MIR6789 JSRP1 AMH LOC105372239 MIR4321 PLEKHJ1
dgv6218n54	Chr.19:2221793 - 2336009 on Build GRCh38	Loss	MIR1227 DOT1L SPPL2B MIR6789 JSRP1 AMH LOC105372239 OAZ1 PLEKHJ1 C19orf35 LSM7 SF3A2 MIR4321 LINGO3
nsv578383	Chr.19:2214058 - 2285197 on Build GRCh38	Loss	MIR1227 SF3A2 DOT1L MIR6789 JSRP1 AMH LOC105372239 OAZ1 MIR4321 PLEKHJ1 C19orf35
nsv833707	Chr.19:2187092 - 2372223 on Build GRCh38	Loss	MIR1227 DOT1L SPPL2B MIR6789 JSRP1 AMH LOC105372239 OAZ1 PLEKHJ1 C19orf35 LSM7 SF3A2 MIR4321 LINGO3

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

skeletal muscle contraction
regulation of ryanodine-sensitive calcium-release channel activity