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System Message

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Gene Symbol: CASKIN2
Assay Reference Genome Location: Chr.17:75501465 on build GRCh38
Cytoband: 17q25.1

Assay ID

Hs02858372_cn

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Catalog #	4400291
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Genomic Map
Assay Details
More Information

Assay Details

Target Gene Details

Entrez Gene ID:	57513
Gene Name:	CASK interacting protein 2
Gene Aliases:	ANKS5B
Location:	Chr.17:75500260-75515583 on Build GRCh38
Assay Gene Location:	Overlaps Intron 20 - Exon 20

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CASKIN2	NM_001142643.2			NP_001136115.1
	NM_020753.4			NP_065804.2
	AB032965.1
	AF451976.1			AAL49757.1
	AK025262.1
	AK300354.1
	AK315936.1
	BC066643.1			AAH66643.1

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv470603	Chr.17:75468213 - 75741366 on Build GRCh38	Loss	RECQL5 CASKIN2 MYO15B SAP30BP SMIM5 TSEN54 LLGL2 SMIM6 TMEM94 ITGB4 MIR6785
nsv516133	Chr.17:75420733 - 75763223 on Build GRCh38	Loss	RECQL5 CASKIN2 MYO15B GALK1 SAP30BP SMIM5 TSEN54 LLGL2 SMIM6 TMEM94 ITGB4 MIR6785
nsv952368	Chr.17:75487920 - 75522019 on Build GRCh38	Deletion	CASKIN2 TSEN54 TMEM94 MIR6785
nsv576027	Chr.17:75249939 - 75750289 on Build GRCh38	Gain	CASKIN2 MIF4GD SAP30BP SMIM5 MIR3678 SMIM6 MIR6785 GRB2 RECQL5 MYO15B GGA3 TSEN54 MRPS7 LLGL2 LOC100287042 SLC25A19 TMEM94 ITGB4
nsv833542	Chr.17:75441043 - 75544993 on Build GRCh38	Loss	CASKIN2 TSEN54 LLGL2 TMEM94 MIR6785

More Information

Set Membership:

Intragenic

Non-exonic

DGV Variation

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Function(s) Process(es)

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