Product Details

Assay Reference Genome Location: Chr.14:67677222 on build GRCh38
Cytoband: 14q24.1
Species: Homo sapiens
Variation Type: Copy Number

Additional Information

Target Gene Details

Entrez Gene ID: 10243
Gene Symbol: GPHN
Gene Name: gephyrin
Gene Aliases: GEPH, GPH, GPHRYN, HKPX1, MOCODC
Location: Chr.14:66507407-67735831 on build GRCh38
Assay Gene Location: Within Intron 30

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
GPHN	XM_017020925.1			XP_016876414.1

Entrez Gene ID: 51109
Gene Symbol: RDH11
Gene Name: retinol dehydrogenase 11 (all-trans/9-cis/11-cis)
Gene Aliases: ARSDR1, CGI82, HCBP12, MDT1, PSDR1, RALR1, RDJCSS, SCALD, SDR7C1
Location: Chr.14:67676800-67695793 on build GRCh38
Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
RDH11	NM_001252650.1	6	1936	NP_001239579.1
	NM_016026.3	7	2146	NP_057110.3
	AF167438.1	7	2096	AAF89632.1
	AI382141.1
	BC026274.1	7	2083	AAH26274.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv521832	Chr14:67674292 - 67738159 on Build GRCh38	Loss	VTI1B RDH12 RDH11 ZFYVE26 GPHN

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