Hs00100018_cn

• Gene Symbol: CDH23
• Assay Reference Genome Location: Chr.10:71510970 on build GRCh38
• Cytoband: 10q22.1

Target Gene Details

• Entrez Gene ID: 64072
• Gene Name: cadherin-related 23
• Gene Aliases: CDHR23, USH1D
• Location: Chr.10:71396934-71815947 on Build GRCh38
• Assay Gene Location: Overlaps Intron 5 - Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CDH23	NM_001171930.1			NP_001165401.1
	NM_001171931.1			NP_001165402.1
	NM_001171932.1			NP_001165403.1
	NM_022124.5			NP_071407.4
	NM_052836.3			NP_443068.1
	XM_006717940.3			XP_006718003.1
	XM_006717942.3			XP_006718005.1
	XM_011540039.2			XP_011538341.1
	XM_011540042.2			XP_011538344.1
	XM_011540043.2			XP_011538345.1
	XM_011540044.2			XP_011538346.1
	XM_011540045.2			XP_011538347.1
	XM_011540048.2			XP_011538350.1
	XM_011540049.2			XP_011538351.1
	XM_011540051.2			XP_011538353.1
	XM_017016499.1			XP_016871988.1
	XM_017016500.1			XP_016871989.1
	AF312024.1			AAG48303.1
	AY010111.2			AAG27034.2
	AY358617.1			AAQ88980.1
	BC011570.1			AAH11570.1
	BC032581.1			AAH32581.1
	BC065284.1			AAH65284.1
	BC108254.1			AAI08255.1
	BC136976.1
	BC136977.1
	BC139903.1

Target Gene Details

• Entrez Gene ID: 102723377
• Gene Name: uncharacterized LOC102723377
• Gene Aliases: -
• Location: Chr.10:71508153-71511920 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC102723377	NR_120672.1
	BX103495.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2759766	Chr.10:71478146 - 71526398 on Build GRCh38	Loss	LOC102723377 CDH23
nsv1044971	Chr.10:71272698 - 71673682 on Build GRCh38	Gain	UNC5B SLC29A3 LOC102723377 CDH23
nsv523021	Chr.10:71480316 - 71585307 on Build GRCh38	Gain	LOC102723377 CDH23
nsv551502	Chr.10:71402480 - 71687524 on Build GRCh38	Gain	LOC102723377 CDH23

More Information

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

Panther Classification:

Molecular Function -

cadherin

Gene Ontology Categories:

Process(es)

calcium ion transport
homophilic cell adhesion via plasma membrane adhesion molecules
visual perception
sensory perception of sound
locomotory behavior
calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules
photoreceptor cell maintenance
response to stimulus
sensory perception of light stimulus
equilibrioception
regulation of cytosolic calcium ion concentration
inner ear receptor stereocilium organization

Function(s)

calcium ion binding
protein binding