Hs03830510_cn

• Gene Symbol: SLC48A1
• Assay Reference Genome Location: Chr.12:47777214 on build GRCh38
• Cytoband: 12q13.11

Target Gene Details

• Entrez Gene ID: 55652
• Gene Name: solute carrier family 48 member 1
• Gene Aliases: HRG-1, HRG1, hHRG-1
• Location: Chr.12:47753605-47782753 on Build GRCh38
• Assay Gene Location: Within Intron 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC48A1	NM_017842.2			NP_060312.2
	XM_005269016.4			XP_005269073.1
	XM_011538558.2			XP_011536860.1
	XM_017019612.1			XP_016875101.1
	XM_017019613.1			XP_016875102.1
	XM_017019614.1			XP_016875103.1
	XM_017019615.1			XP_016875104.1
	XM_017019616.1			XP_016875105.1
	XM_017019617.1			XP_016875106.1
	AK000496.1			BAA91205.1
	AK294075.1
	BC002759.2			AAH02759.2
	BC026344.1
	BC065033.1			AAH65033.1
	BI548780.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv470289	Chr.12:47716768 - 47786725 on Build GRCh38	Gain	RAPGEF3 SLC48A1 ENDOU LOC105369748 HDAC7
dgv94n21	Chr.12:47725779 - 47821397 on Build GRCh38	Loss	RAPGEF3 SLC48A1 LOC105369748 HDAC7

More Information

Additional Information:

For this assay, SNP(s) [rs78215560] 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 -

transporter

Gene Ontology Categories:

Process(es)

heme transport

Function(s)

protein binding
heme transporter activity