Hs05688892_cn

• Gene Symbol: GEMIN8
• Assay Reference Genome Location: Chr.X:14012516 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 Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GEMIN8	NM_001042479.1			NP_001035944.1
	NM_001042480.1			NP_001035945.1
	NM_017856.2			NP_060326.1
	XM_005274555.2			XP_005274612.1
	XM_017029617.1			XP_016885106.1
	XM_017029618.1			XP_016885107.1
	AK000521.1			BAA91227.1
	AK125062.1			BAC86038.1
	BC003607.2			AAH03607.1
	BC014324.1			AAH14324.1
	BC020785.1			AAH20785.1
	BX386466.2
	CR457241.1			CAG33522.1
	DQ224033.1			ABB46495.1

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	GEMIN8 RAB9A OFD1 GPM6B TRAPPC2

More Information

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

Gene Ontology Categories:

Process(es)

spliceosomal snRNP assembly

Function(s)

protein binding