Product Details

Assay Reference Genome Location: Chr.X:18650470 on build GRCh38
Cytoband: Xp22.13
Species: Homo sapiens
Variation Type: Copy Number

Additional Information

Target Gene Details

Entrez Gene ID: 6792
Gene Symbol: CDKL5
Gene Name: cyclin dependent kinase like 5
Gene Aliases: CFAP247, EIEE2, ISSX, STK9
Location: Chr.X:18425605-18653629 on build GRCh38
Assay Gene Location: Within Exon 22

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
CDKL5	NM_001037343.1	21	3107	NP_001032420.1
	NM_003159.2	20	3111	NP_003150.1
	AI286150.1
	AY217744.1	20	3079	AAO64440.1
	Y15057.1	20	3079	CAA75342.1

Entrez Gene ID: 6247
Gene Symbol: RS1
Gene Name: retinoschisin 1
Gene Aliases: RS, XLRS1
Location: Chr.X:18639688-18672103 on build GRCh38
Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
RS1	NM_000330.3			NP_000321.1
	AF014459.1			AAC17928.1
	AL049684.1	1	68
	BQ636812.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv6821	ChrX:18622224 - 18656388 on Build GRCh38	Insertion	RS1 CDKL5
nsv528654	ChrX:18627439 - 18660570 on Build GRCh38	Gain	RS1 CDKL5

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