Hs02516232_cn

• Gene Symbol: ISYNA1
• Assay Reference Genome Location: Chr.19:18435670 on build GRCh38
• Cytoband: 19p13.11

Target Gene Details

• Entrez Gene ID: 51477
• Gene Name: inositol-3-phosphate synthase 1
• Gene Aliases: INO1, INOS, IPS, IPS 1, IPS-1
• Location: Chr.19:18434388-18438301 on Build GRCh38
• Assay Gene Location: Overlaps Intron 6 - Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ISYNA1	NM_001170938.1			NP_001164409.1
	NM_001253389.1			NP_001240318.1
	NM_016368.4			NP_057452.1
	NR_045573.1
	NR_045574.1
	XM_011528059.1			XP_011526361.1
	AF086921.1			AAP97151.1
	AF207640.1			AAG35698.1
	AF220530.1			AAF26444.1
	AK001325.1			BAA91626.1
	AK021526.1			BAB13837.1
	AK092179.1
	AK092433.1
	AK093461.1
	AK296022.1
	AL137749.1			CAB70904.1
	BC004320.1			AAH04320.1
	BC018952.2			AAH18952.1
	BC066902.1			AAH66902.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2677302	Chr.19:18428535 - 18438882 on Build GRCh38	Deletion	SSBP4 ISYNA1
nsv952420	Chr.19:18117791 - 18476990 on Build GRCh38	Deletion	MIR3188 LSM4 IFI30 RAB3A PGPEP1 PIK3R2 LOC729966 SSBP4 KIAA1683 MAST3 PDE4C MIR3189 LRRC25 MPV17L2 ISYNA1 ELL JUND LOC102725254 GDF15
nsv482217	Chr.19:18434815 - 18438133 on Build GRCh38	Gain	ISYNA1

More Information

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

Panther Classification:

Molecular Function -

isomerase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

inositol biosynthetic process
phospholipid biosynthetic process
inositol phosphate metabolic process

Function(s)

inositol-3-phosphate synthase activity
protein binding