Hs02960157_cn

• Gene Symbol: SLC22A12
• Assay Reference Genome Location: Chr.11:64590964 on build GRCh38
• Cytoband: 11q13.1

Target Gene Details

• Entrez Gene ID: 116085
• Gene Name: solute carrier family 22 member 12
• Gene Aliases: OAT4L, RST, URAT1
• Location: Chr.11:64590810-64603250 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC22A12	NM_001276326.1	1	155	NP_001263255.1
	NM_001276327.1	1	155	NP_001263256.1
	NM_144585.3	1	155	NP_653186.2
	NM_153378.2	1	155	NP_700357.1
	AB050269.1	1	155	BAB68364.1
	DQ655912.2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv528506	Chr.11:64577976 - 64933558 on Build GRCh38	Loss	PPP2R5B MIR194-2 PYGM SLC22A12 SF1 EHD1 MIR192 MIR194-2HG MIR6749 MEN1 MAP4K2 MIR6750 ATG2A NRXN2 CDC42BPG RASGRP2
esv2422214	Chr.11:64545019 - 64715946 on Build GRCh38	Deletion	SLC22A12 SLC22A11 NRXN2
dgv1965n54	Chr.11:64566642 - 64806117 on Build GRCh38	Loss	PYGM MEN1 SLC22A12 SF1 MAP4K2 SLC22A11 NRXN2 RASGRP2
nsv832188	Chr.11:64547896 - 64717737 on Build GRCh38	Gain	SLC22A12 SLC22A11 NRXN2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

secondary carrier transporter

Gene Ontology Categories:

Process(es)

inorganic anion transport
urate transport
cellular homeostasis
response to drug
sodium-independent organic anion transport
urate metabolic process
organic acid transmembrane transport

Function(s)

inorganic anion exchanger activity
urate transmembrane transporter activity
sodium-independent organic anion transmembrane transporter activity
PDZ domain binding