Hs01749392_cn

• Gene Symbol: C16orf58
• Assay Reference Genome Location: Chr.16:31489820 on build GRCh38
• Cytoband: 16p11.2

Target Gene Details

• Entrez Gene ID: 64755
• Gene Name: chromosome 16 open reading frame 58
• Gene Aliases: RUS
• Location: Chr.16:31489464-31508419 on Build GRCh38
• Assay Gene Location: Within Exon 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C16orf58	NM_022744.3	13	2468	NP_073581.2
	XM_017023570.1	11	2299	XP_016879059.1
	AK000679.1	9	1889
	AK023930.1	13	2434	BAB14730.1
	AK092580.1	4	2096	BAC03918.1
	AK222913.1	13	2434	BAD96633.1
	AL834462.1	1	291
	BC000822.1			AAH00822.1
	BC009308.2	14	2149	AAH09308.1
	CA448699.1	1	341

Target Gene Details

• Entrez Gene ID: 6524
• Gene Name: solute carrier family 5 member 2
• Gene Aliases: SGLT2
• Location: Chr.16:31482535-31490770 on Build GRCh38
• Assay Gene Location: Within Intron 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC5A2	NM_003041.3			NP_003032.1
	NR_130783.1
	XM_006721072.3			XP_006721135.2
	AK054830.1	3	1518
	BC131542.1
	M95549.1			AAA36608.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1060240	Chr.16:31484552 - 31570129 on Build GRCh38	Gain	C16orf58 LOC105371171 SLC5A2 AHSP FRG2KP YBX3P1
nsv833194	Chr.16:31346858 - 31517224 on Build GRCh38	Loss	TGFB1I1 COX6A2 ARMC5 ITGAD ITGAX C16orf58 LOC105371171 SLC5A2 ZNF843
nsv482193	Chr.16:31483118 - 31490770 on Build GRCh38	Gain	C16orf58 LOC105371171 SLC5A2
esv3570465	Chr.16:31450067 - 31915765 on Build GRCh38	Gain	ARMC5 C16orf58 SLC5A2 AHSP LOC107983990 ZNF720 TGFB1I1 CLUHP3 LOC105371171 VN1R3 ZNF267 FRG2KP YBX3P1

More Information

Additional Information:

For this assay, SNP(s) [rs74015546] 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, Exonic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

secondary carrier transporter

Gene Ontology Categories:

Process(es)

carbohydrate metabolic process
transport
sodium ion transport
glucose transmembrane transport

Function(s)

low-affinity glucose:sodium symporter activity
glucose:sodium symporter activity