Hs02250504_cn

• Gene Symbol: ELMOD3
• Assay Reference Genome Location: Chr.2:85357120 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 Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ELMOD3	NM_001135021.1	5	587	NP_001128493.1
	NM_001135022.1	4	403	NP_001128494.1
	NM_001135023.1	3	359	NP_001128495.1
	NM_032213.4	2	264	NP_115589.2
	XM_005264596.3	4	403	XP_005264653.1
	XM_005264597.3	3	685	XP_005264654.1
	XM_005264598.3	3	308	XP_005264655.1
	XM_017005078.1	3	259	XP_016860567.1
	XM_017005079.1	2	215	XP_016860568.1
	AF258573.1			AAG23776.1
	AK307252.1	3	377
	BC001942.1	2	181	AAH01942.1
	BC010991.2	4	335	AAH10991.1
	BC018666.2	2	181	AAH18666.1
	BC112324.1	3	322	AAI12325.1
	DA294897.1	3	312

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3575266	Chr.2:85065061 - 85379120 on Build GRCh38	Gain	TCF7L1 TGOLN2 LOC100996478 LOC102724579 RETSAT ELMOD3
nsv834282	Chr.2:85237271 - 85414189 on Build GRCh38	Gain	TCF7L1 TGOLN2 CAPG RETSAT ELMOD3

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Function(s)

GTPase activator activity
protein binding