Hs00526610_cn

• Gene Symbol: C12orf40
• Assay Reference Genome Location: Chr.12:39759314 on build GRCh38
• Cytoband: 12q12

Target Gene Details

• Entrez Gene ID: 283461
• Gene Name: chromosome 12 open reading frame 40
• Gene Aliases: HEL-206, HEL-S-94
• Location: Chr.12:39626167-39908300 on Build GRCh38
• Assay Gene Location: Within Intron 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C12orf40	NR_135051.1
	AK097445.1			BAC05057.1
	EU668334.1
	GQ472216.1

Target Gene Details

• Entrez Gene ID: 114134
• Gene Name: solute carrier family 2 member 13
• Gene Aliases: HMIT
• Location: Chr.12:39755021-40106085 on Build GRCh38
• Assay Gene Location: Within Exon 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC2A13	NM_052885.3	10	2710	NP_443117.3
	XM_011537847.2	9	2810	XP_011536149.1
	XM_017018764.1	10	2183	XP_016874253.1
	XM_017018765.1	10	2821	XP_016874254.1
	XM_017018766.1	9	1968	XP_016874255.1
	AJ315644.1	10	2710	CAC51116.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv428280	Chr.12:39728911 - 39805819 on Build GRCh38	Loss	SLC2A13 C12orf40

More Information

Additional Information:

For this assay, SNP(s) [rs116748758] 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 -

transporter

Gene Ontology Categories:

Process(es)

myo-inositol transport
proton transport
hexose transmembrane transport
glucose import
glucose transmembrane transport

Function(s)

protein binding
sugar:proton symporter activity
glucose transmembrane transporter activity
myo-inositol:proton symporter activity