Hs03065160_cn

• Gene Symbol: GEMIN8
• Assay Reference Genome Location: Chr.X:14006995 on build GRCh38
• Cytoband: Xp22.2

Target Gene Details

• Entrez Gene ID: 54960
• Gene Name: gem nuclear organelle associated protein 8
• Gene Aliases: FAM51A1
• Location: Chr.X:14002494-14030087 on Build GRCh38
• Assay Gene Location: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GEMIN8	NM_001042479.1	5	2902	NP_001035944.1
	NM_001042480.1	4	2820	NP_001035945.1
	NM_017856.2	5	2990	NP_060326.1
	XM_017029617.1	5	1991	XP_016885106.1
	XM_017029618.1	5	1963	XP_016885107.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv528634	Chr.X:13696631 - 14038859 on Build GRCh38	Gain	GPM6B TRAPPC2 RAB9A GEMIN8 OFD1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

spliceosomal snRNP assembly

Function(s)

protein binding