Hs01661245_cn

• Gene Symbol: DIRAS1
• Assay Reference Genome Location: Chr.19:2716460 on build GRCh38
• Cytoband: 19p13.3

Target Gene Details

• Entrez Gene ID: 148252
• Gene Name: DIRAS family GTPase 1
• Gene Aliases: Di-Ras1, GBTS1, RIG
• Location: Chr.19:2714567-2721392 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DIRAS1	NM_145173.3	2	1505	NP_660156.1
	XM_011527713.2	2	1670	XP_011526015.1
	AK124445.1	1	816
	AK124672.1	1	268
	AL833958.1	1	294
	BC030660.1	2	1484	AAH30660.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv828399	Chr.19:2714966 - 2724570 on Build GRCh38	Gain	DIRAS1
nsv578398	Chr.19:2701508 - 2717882 on Build GRCh38	Gain	DIRAS1 GNG7
nsv509714	Chr.19:2519629 - 2794403 on Build GRCh38	Insertion	DIRAS1 SGTA MIR7850 SLC39A3 GNG7 THOP1
nsv470109	Chr.19:2557612 - 2719369 on Build GRCh38	Loss	DIRAS1 MIR7850 GNG7
nsv828397	Chr.19:2688987 - 2800506 on Build GRCh38	Gain	DIRAS1 SGTA SLC39A3 GNG7 THOP1

More Information

Additional Information:

For this assay, SNP(s) [rs113692644] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

small GTPase

Gene Ontology Categories:

Process(es)

small GTPase mediated signal transduction
positive regulation of MAP kinase activity

Function(s)

GTPase activity
GTP binding
mitogen-activated protein kinase binding