Product Details

Assay Reference Genome Location: Chr.17:58213093 on build GRCh38
Cytoband: 17q22
Species: Homo sapiens
Variation Type: Copy Number

Additional Information

Target Gene Details

Entrez Gene ID: 54903
Gene Symbol: MKS1
Gene Name: Meckel syndrome, type 1
Gene Aliases: BBS13, MES, MKS, POC12
Location: Chr.17:58205436-58219605 on build GRCh38
Assay Gene Location: Overlaps Intron 8 - Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
MKS1	NM_001165927.1			NP_001159399.1
	NM_001321268.1			NP_001308197.1
	NM_001321269.1			NP_001308198.1
	NM_017777.3			NP_060247.2
	XM_005257485.3			XP_005257542.1
	XM_006721965.2			XP_006722028.1
	XM_011524957.2			XP_011523259.1
	XM_011524958.2			XP_011523260.1
	XM_011524959.2			XP_011523261.1
	XM_011524960.2			XP_011523262.1
	XM_017024803.1			XP_016880292.1
	XM_017024804.1			XP_016880293.1
	XM_017024805.1			XP_016880294.1
	AK000352.1			BAA91105.1
	AK301020.1
	AK310815.1
	BC010061.2			AAH10061.1
	CR457229.1			CAG33510.1
	DQ185029.1			AAZ94714.1
	KU178661.1
	KU178662.1
	KU178663.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv517229	Chr17:58176226 - 58373163 on Build GRCh38	Gain+Loss	SUPT4H1 LPO TSPOAP1-AS1 TSPOAP1 RNF43 MIR142 EPX MKS1 MPO MIR4736

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