Hs03796317_cn

• Gene Symbol: SLC22A12
• Assay Reference Genome Location: Chr.11:64599164 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 Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC22A12	NM_001276326.1			NP_001263255.1
	NM_001276327.1			NP_001263256.1
	NM_144585.3			NP_653186.2
	NM_153378.2			NP_700357.1
	XM_006718430.3			XP_006718493.1
	XM_006718431.3			XP_006718494.1
	AB050269.1			BAB68364.1
	AB071863.1			BAB96750.1
	AK055737.1
	AK122599.1
	AK309588.1
	AK315061.1
	AY358183.1			AAQ88550.1
	BC026291.1
	BC053348.1			AAH53348.1

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	MIR192 MIR6749 EHD1 MEN1 PYGM SLC22A12 PPP2R5B MIR6750 ATG2A NRXN2 SF1 MIR194-2HG MAP4K2 CDC42BPG MIR194-2 RASGRP2
esv2422214	Chr.11:64545019 - 64715946 on Build GRCh38	Deletion	NRXN2 SLC22A11 SLC22A12
dgv1965n54	Chr.11:64566642 - 64806117 on Build GRCh38	Loss	NRXN2 SF1 MAP4K2 SLC22A11 MEN1 PYGM SLC22A12 RASGRP2
nsv832188	Chr.11:64547896 - 64717737 on Build GRCh38	Gain	NRXN2 SLC22A11 SLC22A12
nsv555197	Chr.11:64596819 - 64608835 on Build GRCh38	Loss	NRXN2 SLC22A12

More Information

• Set Membership: Intragenic, Intronic, Non-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