Hs03522295_cn

• Gene Symbol: LOC550113
• Assay Reference Genome Location: Chr.4:68065497 on build GRCh38
• Cytoband: 4q13.2

Target Gene Details

• Entrez Gene ID: 550113
• Gene Name: uncharacterized LOC550113
• Gene Aliases: -
• Location: Chr.4:68053508-68073233 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC550113	NR_046116.1
	AI001926.1

Target Gene Details

• Entrez Gene ID: 389208
• Gene Name: transmembrane protease, serine 11F
• Gene Aliases: -
• Location: Chr.4:68053198-68129869 on Build GRCh38
• Assay Gene Location: Within Intron 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TMPRSS11F	NM_207407.2			NP_997290.2
	XM_011531935.1			XP_011530237.1
	AK122625.1			BAC85495.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2759257	Chr.4:67911288 - 68163195 on Build GRCh38	Gain	SYT14P1 LOC550113 TMPRSS11A TMPRSS11F TMPRSS11GP
nsv515010	Chr.4:68053175 - 68129695 on Build GRCh38	Loss	SYT14P1 LOC550113 TMPRSS11F
nsv818242	Chr.4:67945419 - 68132435 on Build GRCh38	Gain	SYT14P1 LOC550113 TMPRSS11A TMPRSS11F TMPRSS11GP
nsv10514	Chr.4:67923797 - 68150168 on Build GRCh38	Gain	SYT14P1 LOC550113 TMPRSS11A TMPRSS11F TMPRSS11GP
esv22957	Chr.4:67923012 - 68150383 on Build GRCh38	Gain	SYT14P1 LOC550113 TMPRSS11A TMPRSS11F TMPRSS11GP
nsv469718	Chr.4:67952598 - 68109856 on Build GRCh38	Gain	SYT14P1 LOC550113 TMPRSS11A TMPRSS11F TMPRSS11GP
esv3600857	Chr.4:67925571 - 68142494 on Build GRCh38	Gain	SYT14P1 LOC550113 TMPRSS11A TMPRSS11F TMPRSS11GP
nsv1007376	Chr.4:67827765 - 68142484 on Build GRCh38	Gain	SYT14P1 TMPRSS11D LOC550113 TMPRSS11A TMPRSS11F TMPRSS11GP
nsv433367	Chr.4:67931662 - 68147283 on Build GRCh38	Gain	SYT14P1 LOC550113 TMPRSS11A TMPRSS11F TMPRSS11GP
esv35010	Chr.4:67925116 - 68152450 on Build GRCh38	Gain	SYT14P1 LOC550113 TMPRSS11A TMPRSS11F TMPRSS11GP

More Information

Additional Information:

For this assay, SNP(s) [rs80059776] 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 -

serine protease

Gene Ontology Categories:

Process(es)

proteolysis

Function(s)

serine-type endopeptidase activity