Hs00747453_cn

• Gene Symbol: ENTHD1
• Assay Reference Genome Location: Chr.22:39765273 on build GRCh38
• Cytoband: 22q13.1

Target Gene Details

• Entrez Gene ID: 150350
• Gene Name: ENTH domain containing 1
• Gene Aliases: CACNA1I, dJ370M22.3
• Location: Chr.22:39743044-39893884 on Build GRCh38
• Assay Gene Location: Within Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ENTHD1	NM_152512.3	6	1420	NP_689725.2
	XM_006724149.3	6	2015	XP_006724212.1
	XM_006724150.3	6	1205	XP_006724213.1
	XM_006724151.1	5	909	XP_006724214.1
	XM_011529927.2	6	1514	XP_011528229.1
	XM_011529928.2	5	1271	XP_011528230.1
	XM_011529930.2	2	436	XP_011528232.1
	AK058150.1	1	102	BAB71688.1
	AK093154.1	4	654	BAC04075.1
	BC033895.2	6	1420	AAH33895.1
	CR456452.1	5	1215	CAG30338.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1064952	Chr.22:39761296 - 39837729 on Build GRCh38	Loss	ENTHD1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation