Hs03517592_cn

• Gene Symbol: TMEM175
• Assay Reference Genome Location: Chr.4:953006 on build GRCh38
• Cytoband: 4p16.3

Target Gene Details

• Entrez Gene ID: 84286
• Gene Name: transmembrane protein 175
• Gene Aliases: hTMEM175
• Location: Chr.4:932387-958656 on Build GRCh38
• Assay Gene Location: Within Intron 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TMEM175	NM_001297423.1			NP_001284352.1
	NM_001297424.1			NP_001284353.1
	NM_001297425.1			NP_001284354.1
	NM_001297426.1			NP_001284355.1
	NM_001297427.1			NP_001284356.1
	NM_001297428.1			NP_001284357.1
	NM_032326.3			NP_115702.1
	XM_005272301.2			XP_005272358.1
	XM_005272303.4			XP_005272360.1
	XM_005272304.1			XP_005272361.1
	XM_005272307.4			XP_005272364.1
	XM_011513576.1			XP_011511878.1
	XM_017008701.1			XP_016864190.1
	XM_017008702.1			XP_016864191.1
	XM_017008703.1			XP_016864192.1
	XM_017008704.1			XP_016864193.1
	XM_017008705.1			XP_016864194.1
	AK090848.1
	AK309132.1
	AL834199.1			CAD38888.1
	BC005158.2			AAH05158.1
	BI819231.1
	CB992640.1
	CF242841.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1003219	Chr.4:776106 - 1111676 on Build GRCh38	Gain	TMEM175 CPLX1 SLC26A1 RNF212 LOC100129917 FGFRL1 GAK IDUA DGKQ
nsv593226	Chr.4:948218 - 1025223 on Build GRCh38	Loss	TMEM175 SLC26A1 FGFRL1 IDUA DGKQ
nsv822425	Chr.4:546316 - 1420011 on Build GRCh38	Loss	ATP5I SLC26A1 CTBP1-AS2 FGFRL1 CTBP1-AS CTBP1 MFSD7 CPLX1 PDE6B TMED11P LOC100129917 MAEA GAK LOC105374344 TMEM175 LOC100130872 SPON2 MYL5 DGKQ PCGF3 UVSSA LOC107986211 NKX1-1 RNF212 IDUA CRIPAK LOC101928521 LOC101928548
nsv950327	Chr.4:945913 - 978512 on Build GRCh38	Deletion	TMEM175 DGKQ
dgv5079n100	Chr.4:843485 - 970603 on Build GRCh38	Gain	TMEM175 GAK DGKQ
esv29984	Chr.4:857569 - 970571 on Build GRCh38	Loss	TMEM175 GAK DGKQ
nsv469998	Chr.4:815805 - 1093743 on Build GRCh38	Loss	TMEM175 CPLX1 SLC26A1 RNF212 FGFRL1 GAK IDUA DGKQ
nsv1008352	Chr.4:819605 - 1041628 on Build GRCh38	Gain	TMEM175 CPLX1 SLC26A1 FGFRL1 GAK IDUA DGKQ

More Information

Additional Information:

For this assay, SNP(s) [rs115117276] 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)

regulation of lysosomal lumen pH
potassium ion transmembrane transport
phagosome-lysosome fusion

Function(s)

potassium ion leak channel activity