Hs03971073_cn

• Gene Symbol: TTYH2
• Assay Reference Genome Location: Chr.17:74224609 on build GRCh38
• Cytoband: 17q25.1

Target Gene Details

• Entrez Gene ID: 94015
• Gene Name: tweety family member 2
• Gene Aliases: C17orf29
• Location: Chr.17:74213557-74262020 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TTYH2	NM_032646.5			NP_116035.5
	XM_005257824.3			XP_005257881.1
	AF319952.1			AAL16784.1
	AK296511.1
	AK315163.1
	BC005168.1			AAH05168.1
	BC107492.1			AAI07493.1
	BC107602.1			AAI07603.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv12e196	Chr.17:73675043 - 74565539 on Build GRCh38	Duplication	LOC400620 BTBD17 CD300C TTYH2 LOC100134391 CD300LB KIF19 MGC16275 DNAI2 CD300A LINC00469 LOC100130520 GPRC5C GPR142 RPL38
nsv509673	Chr.17:74166954 - 74428841 on Build GRCh38	Insertion	BTBD17 TTYH2 KIF19 MGC16275 DNAI2 GPR142 RPL38
esv2761978	Chr.17:73835799 - 74684915 on Build GRCh38	Gain	BTBD17 CD300C TTYH2 CD300LD CD300LB KIF19 MGC16275 LOC101928343 DNAI2 CD300A LOC100130520 RAB37 CD300E GPRC5C GPR142 C17orf77 RPL38
dgv587e214	Chr.17:74105938 - 74249469 on Build GRCh38	Gain	TTYH2 MGC16275 RPL38
esv3641230	Chr.17:73831787 - 74694861 on Build GRCh38	Gain	BTBD17 CD300C TTYH2 CD300LD CD300LB KIF19 MGC16275 LOC101928343 DNAI2 CD300A CD300LF LOC100130520 RAB37 CD300E GPRC5C GPR142 C17orf77 RPL38
dgv3282n100	Chr.17:73814343 - 74719597 on Build GRCh38	Gain	BTBD17 CD300C TTYH2 CD300LD CD300LB KIF19 MGC16275 LOC101928343 DNAI2 CD300A CD300LF LINC00469 LOC100130520 RAB37 CD300E GPRC5C GPR142 C17orf77 RPL38
nsv517569	Chr.17:73837862 - 74685802 on Build GRCh38	Gain+Loss	BTBD17 CD300C TTYH2 CD300LD CD300LB KIF19 MGC16275 LOC101928343 DNAI2 CD300A LOC100130520 RAB37 CD300E GPRC5C GPR142 C17orf77 RPL38
dgv5768n54	Chr.17:73826016 - 74706775 on Build GRCh38	Gain	BTBD17 CD300C TTYH2 CD300LD CD300LB KIF19 MGC16275 LOC101928343 DNAI2 CD300A CD300LF LINC00469 LOC100130520 RAB37 CD300E GPRC5C GPR142 C17orf77 RPL38
nsv833538	Chr.17:74176724 - 74392351 on Build GRCh38	Gain	BTBD17 TTYH2 KIF19 MGC16275 DNAI2 GPR142 RPL38
esv3573820	Chr.17:73817932 - 74694378 on Build GRCh38	Gain	BTBD17 CD300C TTYH2 CD300LD CD300LB KIF19 MGC16275 LOC101928343 DNAI2 CD300A CD300LF LINC00469 LOC100130520 RAB37 CD300E GPRC5C GPR142 C17orf77 RPL38

More Information

Additional Information:

For this assay, SNP(s) [rs79897528] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

ion channel

Gene Ontology Categories:

Process(es)

chloride transmembrane transport

Function(s)

chloride channel activity
protein binding