Hs04716962_cn

• Gene Symbol: ELMOD3
• Assay Reference Genome Location: Chr.2:85389075 on build GRCh38
• Cytoband: 2p11.2

Target Gene Details

• Entrez Gene ID: 84173
• Gene Name: ELMO domain containing 3
• Gene Aliases: DFNB88, LST3, RBED1, RBM29
• Location: Chr.2:85354394-85391752 on Build GRCh38
• Assay Gene Location: Within Intron 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ELMOD3	NM_001135021.1			NP_001128493.1
	NM_001135022.1			NP_001128494.1
	NM_001135023.1			NP_001128495.1
	NM_032213.4			NP_115589.2
	XM_005264596.3			XP_005264653.1
	XM_005264597.3			XP_005264654.1
	XM_005264598.3			XP_005264655.1
	XM_017005078.1			XP_016860567.1
	XM_017005079.1			XP_016860568.1
	AF258573.1			AAG23776.1
	BC001942.1			AAH01942.1
	BC010991.2			AAH10991.1
	BC018666.2			AAH18666.1
	BC112324.1			AAI12325.1
	DQ256726.1			ABB69067.1
	DQ256727.1			ABB69068.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv834283	Chr.2:85382377 - 85528585 on Build GRCh38	Loss	CAPG ELMOD3 SH2D6
nsv834282	Chr.2:85237271 - 85414189 on Build GRCh38	Gain	CAPG ELMOD3 TCF7L1 RETSAT TGOLN2

More Information

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

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Function(s)

GTPase activator activity
protein binding