Hs05549236_cn

• Gene Symbol: TMEM50B
• Assay Reference Genome Location: Chr.21:33452071 on build GRCh38
• Cytoband: 21q22.11

Target Gene Details

• Entrez Gene ID: 757
• Gene Name: transmembrane protein 50B
• Gene Aliases: C21orf4, HCVP7TP3
• Location: Chr.21:33432486-33480009 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TMEM50B	NM_006134.6			NP_006125.2
	NR_040016.1
	XM_011529746.1			XP_011528048.1
	AF045606.2			AAC05974.2
	AF086280.1
	AK309977.1
	AK310701.1
	AK311870.1
	AY358634.1			AAQ88997.1
	AY820138.1			AAV68502.1
	BC000569.2			AAH00569.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv587396	Chr.21:33449065 - 33462420 on Build GRCh38	Loss	TMEM50B
nsv528264	Chr.21:33437700 - 33465479 on Build GRCh38	Gain	TMEM50B
esv3893406	Chr.21:33437386 - 33486199 on Build GRCh38	Loss	TMEM50B IFNGR2
nsv3497	Chr.21:33449048 - 33488305 on Build GRCh38	Insertion	DNAJC28 TMEM50B
nsv834087	Chr.21:33325890 - 33469002 on Build GRCh38	Gain	IFNAR1 TMEM50B IFNGR2

More Information

Additional Information:

For this assay, SNP(s) [rs117907247] 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

Gene Ontology Categories:

Process(es)

biological_process

Function(s)

molecular_function