SLC22A1 (solute carrier family 22 member 1)

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Gene: SLC22A1 (solute carrier family 22 member 1) Homo sapiens

Analyze

Symbol:

SLC22A1

Name:

solute carrier family 22 member 1

RGD ID:

732626

HGNC Page

HGNC:10963

Description:

Enables several functions, including organic cation transmembrane transporter activity; prostaglandin transmembrane transporter activity; and toxin transmembrane transporter activity. Involved in several processes, including monoamine transport; putrescine transport; and thiamine transmembrane transport. Located in apical plasma membrane; basolateral plasma membrane; and lateral plasma membrane.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

HOCT1; OCT1; oct1_cds; organic cation transporter 1; solute carrier family 22 (organic cation transporter), member 1

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Slc22a1 (solute carrier family 22 (organic cation transporter), member 1)	HGNC	Ensembl, HGNC, HomoloGene, Inparanoid, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Slc22a1 (solute carrier family 22 member 1)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB
Pan paniscus (bonobo/pygmy chimpanzee):	SLC22A1 (solute carrier family 22 member 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	SLC22A1 (solute carrier family 22 member 1)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Slc22a1 (solute carrier family 22 member 1)	NCBI	Ortholog
Sus scrofa (pig):	SLC22A1 (solute carrier family 22 member 1)	HGNC	Ensembl, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	SLC22A1 (solute carrier family 22 member 1)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Slc22a2 (solute carrier family 22 (organic cation transporter), member 2)	HGNC	OrthoDB, OrthoMCL
Rattus norvegicus (Norway rat):	Slc22a2 (solute carrier family 22 member 2)	HGNC	OrthoDB
Canis lupus familiaris (dog):	SLC22A2 (solute carrier family 22 member 2)	HGNC	OrthoDB
Rattus norvegicus (Norway rat):	Or7g32 (olfactory receptor family 7 subfamily G member 32)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Slc22a1 (solute carrier family 22 member 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Slc22a1 (solute carrier family 22 (organic cation transporter), member 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	slc22a2 (solute carrier family 22 member 2)	Alliance	DIOPT (Hieranoid\|InParanoid\|OrthoFinder\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Balat	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|PANTHER)
Caenorhabditis elegans (roundworm):	oct-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|PANTHER)
Caenorhabditis elegans (roundworm):	T22F7.1	Alliance	DIOPT (Ensembl Compara\|OMA\|PANTHER)
Saccharomyces cerevisiae (baker's yeast):	GIT1	Alliance	DIOPT (Ensembl Compara\|Hieranoid)
Drosophila melanogaster (fruit fly):	CarT	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|PANTHER)
Drosophila melanogaster (fruit fly):	CG42269	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|PANTHER)
Drosophila melanogaster (fruit fly):	CG7084	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|PANTHER)
Drosophila melanogaster (fruit fly):	Orct	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER)
Drosophila melanogaster (fruit fly):	Orct2	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER)
Drosophila melanogaster (fruit fly):	CG4630	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER)
Drosophila melanogaster (fruit fly):	CG7458	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER)
Drosophila melanogaster (fruit fly):	CG6126	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER)
Drosophila melanogaster (fruit fly):	SLC22A	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	160,121,815 - 160,158,718 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	160,121,815 - 160,158,718 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	160,542,847 - 160,579,750 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	160,462,853 - 160,499,740 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	160,513,273 - 160,550,159	NCBI
Celera	6	161,188,634 - 161,224,539 (+)	NCBI		Celera
Cytogenetic Map	6	q25.3	NCBI
HuRef	6	158,013,550 - 158,049,540 (+)	NCBI		HuRef
CHM1_1	6	160,805,108 - 160,841,995 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	6	161,367,910 - 161,404,908 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (IAGP)

acute kidney failure (ISO)

asthma (ISO)

Colonic Neoplasms (EXP)

Endotoxemia (ISO)

Experimental Diabetes Mellitus (ISO)

extrahepatic cholestasis (ISO)

hepatocellular carcinoma (EXP)

Hirschsprung's disease (IAGP)

hyperuricemia (ISO)

intrahepatic cholestasis (ISO)

Kidney Neoplasms (ISO)

Kidney Reperfusion Injury (ISO)

obesity (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-artemisinin (EXP)

(+)-schisandrin B (ISO)

(1->4)-beta-D-glucan (ISO)

(R)-carnitine (ISO)

(S)-nicotine (EXP)

1,1'-diethyl-2,2'-cyanine (EXP)

1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane (EXP)

1,1-dichloroethene (ISO)

1,2-dimethylhydrazine (ISO)

1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (ISO)

1-methylnicotinamide (EXP)

1-naphthyl isothiocyanate (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP)

2,2',4,4'-Tetrabromodiphenyl ether (ISO)

2,3,7,8-tetrachlorodibenzodioxine (EXP,ISO)

2,4-dibromophenyl 2,4,5-tribromophenyl ether (ISO)

2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile (EXP)

3,3',5,5'-tetrabromobisphenol A (EXP)

3,4,8-Trimethyl-1H,2H,3H-imidazo[4,5-F]quinoxalin-2-imine (EXP)

3-[2-(ethylamino)-1-hydroxyethyl]phenol (EXP)

3-Amino-1-methyl-5H-pyrido[4,3-b]indole (EXP)

3-chloropropane-1,2-diol (ISO)

4,4'-diaminodiphenylmethane (ISO)

4,4'-sulfonyldiphenol (EXP)

4-hydroxyphenyl retinamide (ISO)

5-[3-(tert-butylamino)-2-hydroxypropoxy]-1,2,3,4-tetrahydronaphthalene-2,3-diol (EXP)

5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole (ISO)

6-propyl-2-thiouracil (ISO)

[2,8-bis(trifluoromethyl)quinolin-4-yl]-(2-piperidyl)methanol (EXP)

abacavir (EXP)

acetamide (ISO)

acetamiprid (EXP)

acrylamide (ISO)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

allopurinol (ISO)

amiodarone (EXP,ISO)

amitriptyline (EXP)

ammonium chloride (ISO)

angelicin (ISO)

aristolochic acid A (EXP)

aristolochic acids (ISO)

atazanavir sulfate (EXP)

atenolol (EXP)

atorvastatin calcium (EXP,ISO)

atropine (EXP)

bacitracin (ISO)

benzbromarone (ISO)

benzo[a]pyrene (EXP,ISO)

beta-carboline (EXP)

beta-naphthoflavone (EXP)

biphenyl-4-amine (EXP)

bisoprolol (EXP)

bisphenol A (EXP,ISO)

bisphenol F (EXP)

buta-1,3-diene (ISO)

cadmium dichloride (ISO)

carvedilol (EXP)

CGP 52608 (EXP)

chenodeoxycholic acid (EXP)

chlordecone (ISO)

chloroquine (EXP)

chlorphenamine (ISO)

cimetidine (EXP,ISO)

cisplatin (ISO)

clofibrate (ISO)

clonidine (EXP)

clonidine (amino form) (EXP)

clonidine (imino form) (EXP)

cobalt dichloride (ISO)

cyclosporin A (EXP)

deoxycholic acid (EXP,ISO)

dexamethasone (EXP,ISO)

dextran sulfate (ISO)

dibenzofurans (ISO)

dichlorine (ISO)

diclofenac (EXP)

dieldrin (EXP)

diethylstilbestrol (ISO)

digoxin (EXP)

diltiazem (EXP)

diosmetin (EXP)

diphenhydramine (EXP)

disopyramide (ISO)

dopamine (ISO)

doxorubicin (ISO)

endosulfan (EXP)

ethidium (EXP,ISO)

famotidine (EXP,ISO)

fenthion (ISO)

finasteride (ISO)

flecainide (EXP)

flutamide (ISO)

folic acid (EXP,ISO)

fonofos (EXP)

fructose (ISO)

fumonisin B1 (ISO)

gamma-hexachlorocyclohexane (EXP)

genistein (ISO)

gentamycin (ISO)

glafenine (ISO)

glycochenodeoxycholic acid (EXP)

glycocholic acid (EXP)

glycodeoxycholic acid (EXP)

graphite (ISO)

harman (EXP)

heptachlor (EXP)

hyperforin (EXP)

ibuprofen (EXP)

icariin (ISO)

imidacloprid (EXP)

imipramine (EXP)

imperatorin (ISO)

indometacin (EXP)

ipratropium (EXP)

isoimperatorin (ISO)

ketoprofen (EXP)

L-ethionine (ISO)

lamivudine (EXP)

lidocaine (EXP)

lipopolysaccharide (EXP,ISO)

manganese(II) chloride (ISO)

mangiferin (ISO)

mefenamic acid (EXP)

mefloquine (EXP)

MeIQ (EXP)

mercury atom (ISO)

mercury(0) (ISO)

metformin (EXP)

methoxsalen (ISO)

metoprolol (EXP)

molsidomine (EXP)

monocrotaline (EXP)

monosodium L-glutamate (ISO)

N,N-diethyl-m-toluamide (ISO)

N-methyl-4-phenylpyridinium (EXP,ISO)

N-Nitrosopyrrolidine (EXP)

N1'-[2-[[5-[(dimethylamino)methyl]-2-furanyl]methylthio]ethyl]-N1-methyl-2-nitroethene-1,1-diamine (EXP,ISO)

nadolol (EXP)

nefazodone (EXP,ISO)

nicotine (EXP)

nifedipine (EXP)

nimesulide (ISO)

nitenpyram (EXP)

O-methyleugenol (EXP)

ochratoxin A (ISO)

omeprazole (ISO)

ozone (EXP,ISO)

paracetamol (EXP,ISO)

paraquat (ISO)

parathion (EXP)

perfluorobutanesulfonic acid (EXP)

perfluorononanoic acid (EXP)

perfluorooctane-1-sulfonic acid (EXP,ISO)

perfluorooctanoic acid (EXP)

permethrin (ISO)

phenobarbital (ISO)

Phenoxybenzamine (EXP)

phenylephrine (ISO)

PhIP (ISO)

pirinixic acid (EXP,ISO)

Potassium 2,6-dihydroxytriazinecarboxylate (ISO)

potassium dichromate (ISO)

prazosin (EXP)

probenecid (ISO)

prochloraz (ISO)

progesterone (EXP,ISO)

propafenone (EXP)

propranolol (EXP)

psoralen (ISO)

pyrimethamine (EXP)

quercetin (EXP,ISO)

quinidine (EXP,ISO)

quinine (EXP,ISO)

ranitidine (EXP,ISO)

resveratrol (ISO)

Retrorsine (EXP)

rifampicin (EXP)

rutin (ISO)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

senecionine (ISO)

silicon dioxide (EXP)

sodium arsenite (EXP)

sodium dichromate (ISO)

soybean oil (ISO)

spironolactone (EXP)

streptozocin (ISO)

sulindac (EXP)

Sunset Yellow FCF (EXP)

synephrine (ISO)

talinolol (EXP)

tartrazine (EXP)

terbufos (EXP)

tetrabutylammonium (ISO)

tetrachloromethane (ISO)

tetraethylammonium (EXP,ISO)

tetrahydropalmatine (EXP)

tetrapentylammonium (ISO)

thiacloprid (EXP)

thioacetamide (ISO)

titanium dioxide (ISO)

trans-piceid (ISO)

trichloroethene (ISO)

trimethoprim (EXP)

troglitazone (EXP)

tropan-3alpha-yl 3-hydroxy-2-phenylpropanoate (EXP)

trospium chloride (EXP)

trovafloxacin (ISO)

urethane (EXP)

valproic acid (EXP,ISO)

verapamil (EXP)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

(R)-carnitine transmembrane transport (IEA)

acetylcholine transport (IDA,IEA)

acyl carnitine transmembrane transport (IEA)

cellular detoxification (IDA,IEA,IMP)

dopamine transport (IDA,IEA,ISO)

dopamine uptake (IDA)

epinephrine transport (IDA,IEA,ISO)

establishment or maintenance of transmembrane electrochemical gradient (IEA,ISO)

metanephric proximal tubule development (IEA,ISO)

monoamine transport (IDA,IEA,ISO)

monoatomic cation transmembrane transport (IEA,ISO)

monoatomic cation transport (IEA,ISO)

monoatomic ion transport (IEA)

neurotransmitter transport (IDA)

norepinephrine transport (IDA,IEA,ISO)

norepinephrine uptake (IEA)

organic cation transport (IBA,IDA,IEA,ISO,TAS)

prostaglandin transport (IDA)

purine-containing compound transmembrane transport (TAS)

putrescine transport (IDA)

quaternary ammonium group transport (IDA,IEA,ISO)

serotonin transport (IDA,IEA)

serotonin uptake (IDA)

spermidine transmembrane transport (IEA)

spermidine transport (IEA,ISS)

thiamine transmembrane transport (IDA,IEA)

thiamine transport (IDA)

transmembrane transport (IEA)

transport across blood-brain barrier (NAS)

xenobiotic metabolic process (TAS)

xenobiotic transport (IDA,IEA,IMP)

xenobiotic transport across blood-brain barrier (NAS)

Cellular Component

apical plasma membrane (IDA,IEA)

basal plasma membrane (IDA,IEA)

basolateral plasma membrane (IDA,IEA,ISO,TAS)

lateral plasma membrane (IDA,IEA)

membrane (IEA,TAS)

plasma membrane (IEA,TAS)

presynapse (IEA)

Molecular Function

(R)-carnitine transmembrane transporter activity (IEA)

acetylcholine transmembrane transporter activity (IDA,IEA,ISO)

dopamine:sodium symporter activity (IEA,ISO)

identical protein binding (IEA,ISO)

monoamine transmembrane transporter activity (IDA,IEA,ISO)

neurotransmitter transmembrane transporter activity (IDA,IEA)

norepinephrine:sodium symporter activity (IEA,ISO)

organic anion transmembrane transporter activity (IDA)

organic cation transmembrane transporter activity (EXP,IBA,IDA,IEA,ISO,TAS)

prostaglandin transmembrane transporter activity (IDA)

protein binding (IPI)

putrescine transmembrane transporter activity (IDA)

pyrimidine nucleoside transmembrane transporter activity (IEA,IMP)

quaternary ammonium group transmembrane transporter activity (IDA,IEA,ISO)

spermidine transmembrane transporter activity (IEA,ISS)

thiamine transmembrane transporter activity (IEA)

toxin transmembrane transporter activity (IDA,IEA,IMP)

transmembrane transporter activity (IEA)

xenobiotic transmembrane transporter activity (IDA,IEA,IMP)

Molecular Pathway Annotations Click to see Annotation Detail View

bile acid transport pathway (IEA)

lamivudine pharmacokinetics pathway (EXP)

metformin pharmacokinetics pathway (TAS)

tramadol pharmacokinetics pathway (EXP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Aganglionic megacolon (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Metformin pathways: pharmacokinetics and pharmacodynamics.	Gong L, etal., Pharmacogenet Genomics. 2012 Nov;22(11):820-7. doi: 10.1097/FPC.0b013e3283559b22.
2.	Nitric oxide down-regulates the expression of organic cation transporters (OCT) 1 and 2 in rat kidney during endotoxemia.	Heemskerk S, etal., Eur J Pharmacol. 2008 Apr 28;584(2-3):390-7. doi: 10.1016/j.ejphar.2008.02.006. Epub 2008 Feb 12.
3.	Quercetin regulates organic ion transporter and uromodulin expression and improves renal function in hyperuricemic mice.	Hu QH, etal., Eur J Nutr. 2012 Aug;51(5):593-606. doi: 10.1007/s00394-011-0243-y. Epub 2011 Sep 10.
4.	Reduced antidiabetic effect of metformin and down-regulation of hepatic Oct1 in rats with ethynylestradiol-induced cholestasis.	Jin HE, etal., Pharm Res. 2009 Mar;26(3):549-59. doi: 10.1007/s11095-008-9770-5. Epub 2008 Nov 11.
5.	Elevated systemic elimination of cimetidine in rats with acute biliary obstruction: the role of renal organic cation transporter OCT2.	Kurata T, etal., Drug Metab Pharmacokinet. 2010;25(4):328-34.
6.	Down-regulation of the non-neuronal acetylcholine synthesis and release machinery in acute allergic airway inflammation of rat and mouse.	Lips KS, etal., Life Sci. 2007 May 30;80(24-25):2263-9. Epub 2007 Jan 23.
7.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
8.	SMPDB Annotation Import Pipeline	Pipeline to import SMPDB annotations from SMPDB into RGD
9.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
10.	Nitric oxide-induced regulation of renal organic cation transport after renal ischemia-reperfusion injury.	Schneider R, etal., Am J Physiol Renal Physiol. 2011 Nov;301(5):F997-F1004. doi: 10.1152/ajprenal.00264.2011. Epub 2011 Aug 10.
11.	Regulation of renal organic anion and cation transporters by thymoquinone in cisplatin induced kidney injury.	Ulu R, etal., Food Chem Toxicol. 2012 May;50(5):1675-9. doi: 10.1016/j.fct.2012.02.082. Epub 2012 Mar 3.
12.	Mulberroside a possesses potent uricosuric and nephroprotective effects in hyperuricemic mice.	Wang CP, etal., Planta Med. 2011 May;77(8):786-94. doi: 10.1055/s-0030-1250599. Epub 2010 Dec 10.
13.	Renal tumours in a Tsc1(+)/(-) mouse model show epigenetic suppression of organic cation transporters Slc22a1, Slc22a2 and Slc22a3, and do not respond to metformin.	Yang J, etal., Eur J Cancer. 2013 Apr;49(6):1479-90. doi: 10.1016/j.ejca.2012.10.027. Epub 2012 Dec 7.

Additional References at PubMed

PMID:1727476	PMID:7690421	PMID:8902060	PMID:9078256	PMID:9187257	PMID:9260930	PMID:9605850	PMID:9933568	PMID:10541551	PMID:11136971	PMID:11388889	PMID:11408531
PMID:11447227	PMID:11543633	PMID:11752456	PMID:11907186	PMID:12439217	PMID:12439218	PMID:12477932	PMID:12719534	PMID:14697261	PMID:15135235	PMID:15389554	PMID:15499200
PMID:15817714	PMID:16141367	PMID:16263091	PMID:16597591	PMID:17111267	PMID:17220237	PMID:17393420	PMID:17460754	PMID:17476361	PMID:17568400	PMID:17609683	PMID:17635184
PMID:17701831	PMID:17934801	PMID:17971819	PMID:18483382	PMID:18559609	PMID:18669873	PMID:19021069	PMID:19141712	PMID:19141860	PMID:19336679	PMID:19343046	PMID:19381165
PMID:19536068	PMID:19584153	PMID:19591196	PMID:19833842	PMID:19898263	PMID:19950608	PMID:19954617	PMID:20143233	PMID:20173083	PMID:20363215	PMID:20371711	PMID:20379614
PMID:20424473	PMID:20429798	PMID:20445576	PMID:20477935	PMID:20660041	PMID:20679960	PMID:20680652	PMID:20682687	PMID:20686565	PMID:20720558	PMID:20921968	PMID:20959405
PMID:20960210	PMID:21044367	PMID:21104302	PMID:21128598	PMID:21743057	PMID:21873635	PMID:21886157	PMID:21988832	PMID:22202118	PMID:22207690	PMID:22483271	PMID:22498645
PMID:22508387	PMID:22718759	PMID:22735389	PMID:22806583	PMID:22810231	PMID:22875535	PMID:22913740	PMID:23144633	PMID:23223357	PMID:23272163	PMID:23333304	PMID:23440379
PMID:23532667	PMID:23545524	PMID:23567998	PMID:23612856	PMID:23680637	PMID:23836662	PMID:23859569	PMID:23922447	PMID:23929842	PMID:24097068	PMID:24117365	PMID:24215657
PMID:24291757	PMID:24352644	PMID:24399729	PMID:24469953	PMID:24524306	PMID:24530383	PMID:24533710	PMID:24688079	PMID:24780098	PMID:24816252	PMID:24961373	PMID:25155932
PMID:25358338	PMID:25582574	PMID:25753371	PMID:25883089	PMID:26354214	PMID:26546461	PMID:26590417	PMID:26605869	PMID:26657401	PMID:26872727	PMID:26920453	PMID:27082504
PMID:27207652	PMID:27278216	PMID:27407018	PMID:27493135	PMID:27610747	PMID:28154092	PMID:28362799	PMID:28714373	PMID:28942964	PMID:29193038	PMID:29236753	PMID:29427770
PMID:29659562	PMID:29949790	PMID:30181619	PMID:30262695	PMID:30274012	PMID:30280653	PMID:30885951	PMID:31012983	PMID:31318583	PMID:31463827	PMID:31953214	PMID:32285752
PMID:32296183	PMID:32961667	PMID:33075481	PMID:33121489	PMID:34128532	PMID:34238413	PMID:34545025	PMID:34902340	PMID:34927264	PMID:35216120	PMID:35307651	PMID:35413990
PMID:35456416	PMID:35469921	PMID:36853844	PMID:37821493	PMID:38605354	PMID:38703769	PMID:39068198

Genomics

Comparative Map Data

SLC22A1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	160,121,815 - 160,158,718 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	160,121,815 - 160,158,718 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	160,542,847 - 160,579,750 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	160,462,853 - 160,499,740 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	160,513,273 - 160,550,159	NCBI
Celera	6	161,188,634 - 161,224,539 (+)	NCBI		Celera
Cytogenetic Map	6	q25.3	NCBI
HuRef	6	158,013,550 - 158,049,540 (+)	NCBI		HuRef
CHM1_1	6	160,805,108 - 160,841,995 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	6	161,367,910 - 161,404,908 (+)	NCBI		T2T-CHM13v2.0

Slc22a1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	17	12,867,761 - 12,894,725 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	17	12,867,756 - 12,894,716 (-)	Ensembl		GRCm39 Ensembl
GRCm38	17	12,648,874 - 12,675,838 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	17	12,648,869 - 12,675,829 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	17	12,841,740 - 12,868,704 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	17	12,492,232 - 12,519,196 (-)	NCBI		MGSCv36	mm8
Celera	17	12,680,587 - 12,707,864 (-)	NCBI		Celera
Cytogenetic Map	17	A1	NCBI
cM Map	17	8.63	NCBI

Slc22a1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	50,624,339 - 50,651,437 (+)	NCBI		GRCr8
mRatBN7.2	1	48,076,657 - 48,103,679 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	48,076,666 - 48,103,678 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	48,768,287 - 48,795,288 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	54,754,091 - 54,781,071 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	48,843,810 - 48,870,799 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	48,273,639 - 48,300,645 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	48,273,611 - 48,300,655 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	51,452,604 - 51,479,610 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	42,351,239 - 42,378,295 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	42,354,183 - 42,381,239 (+)	NCBI
Celera	1	43,876,335 - 43,903,290 (+)	NCBI		Celera
Cytogenetic Map	1	q11	NCBI

SLC22A1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	5	180,216,337 - 180,263,051 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	6	178,125,295 - 178,169,671 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	6	158,004,545 - 158,046,428 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	6	163,014,522 - 163,054,818 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	6	163,014,663 - 163,054,681 (+)	Ensembl	panpan1.1		panPan2

SLC22A1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	1	49,268,978 - 49,296,522 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	50,109,085 - 50,138,635 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	49,451,887 - 49,481,466 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	1	49,451,182 - 49,482,182 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	1	49,334,247 - 49,363,803 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	49,205,883 - 49,235,453 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	49,820,796 - 49,850,348 (+)	NCBI		UU_Cfam_GSD_1.0

Slc22a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404946	144,281,749 - 144,305,075 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936489	11,534,095 - 11,556,745 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936489	11,534,095 - 11,556,759 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SLC22A1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	1	7,340,126 - 7,365,520 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	1	7,340,442 - 7,365,543 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	9,139,435 - 9,164,369 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SLC22A1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	13	87,744,600 - 87,780,846 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	13	87,745,023 - 87,781,073 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666040	60,132,123 - 60,167,647 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in SLC22A1
63 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	copy number gain	See cases [RCV000050604]	Chr6:141132990..169339571 [GRCh38] Chr6:141454127..169739666 [GRCh37] Chr6:141495820..169481591 [NCBI36] Chr6:6q24.1-27	pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170583214)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]\|See cases [RCV000051902]	Chr6:152376338..170583214 [GRCh38] Chr6:152697473..170892302 [GRCh37] Chr6:152739166..170734227 [NCBI36] Chr6:6q25.2-27	pathogenic
GRCh38/hg38 6q25.3-27(chr6:158664768-170612001)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]\|See cases [RCV000051904]	Chr6:158664768..170612001 [GRCh38] Chr6:159085800..170921089 [GRCh37] Chr6:159005788..170763014 [NCBI36] Chr6:6q25.3-27	pathogenic
GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	copy number loss	See cases [RCV000052207]	Chr6:154118058..170602152 [GRCh38] Chr6:154439193..170911240 [GRCh37] Chr6:154480885..170753165 [NCBI36] Chr6:6q25.2-27	pathogenic
GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	copy number loss	See cases [RCV000052209]	Chr6:159454639..170612001 [GRCh38] Chr6:159875671..170921089 [GRCh37] Chr6:159795661..170763014 [NCBI36] Chr6:6q25.3-27	pathogenic
GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1	copy number loss	See cases [RCV000052211]	Chr6:159825913..170612001 [GRCh38] Chr6:160246945..170921089 [GRCh37] Chr6:160166935..170763014 [NCBI36] Chr6:6q25.3-27	pathogenic
GRCh38/hg38 6q25.3(chr6:160133052-160158522)x3	copy number gain	See cases [RCV000136286]	Chr6:160133052..160158522 [GRCh38] Chr6:160554084..160579554 [GRCh37] Chr6:160474074..160499544 [NCBI36] Chr6:6q25.3	benign
GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	copy number loss	See cases [RCV000137381]	Chr6:154539655..170714507 [GRCh38] Chr6:154860789..171023595 [GRCh37] Chr6:154902481..170865520 [NCBI36] Chr6:6q25.2-27	pathogenic
GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1	copy number loss	See cases [RCV000137831]	Chr6:155378049..163133499 [GRCh38] Chr6:155699183..163554531 [GRCh37] Chr6:155740875..163474521 [NCBI36] Chr6:6q25.3-26	pathogenic
GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1	copy number loss	See cases [RCV000139636]	Chr6:159915390..170714507 [GRCh38] Chr6:160336422..171023595 [GRCh37] Chr6:160256412..170865520 [NCBI36] Chr6:6q25.3-27	pathogenic
GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	copy number loss	See cases [RCV000141880]	Chr6:152793402..170610394 [GRCh38] Chr6:153114537..170919482 [GRCh37] Chr6:153156230..170761407 [NCBI36] Chr6:6q25.2-27	pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	copy number gain	See cases [RCV000142594]	Chr6:152376338..170612001 [GRCh38] Chr6:152697473..170921089 [GRCh37] Chr6:152739166..170763014 [NCBI36] Chr6:6q25.2-27	pathogenic
GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	copy number gain	See cases [RCV000143444]	Chr6:133537271..165875545 [GRCh38] Chr6:133858409..166289033 [GRCh37] Chr6:133900102..166209023 [NCBI36] Chr6:6q23.2-27	pathogenic
GRCh38/hg38 6q25.3-26(chr6:158585724-160899783)x3	copy number gain	See cases [RCV000143618]	Chr6:158585724..160899783 [GRCh38] Chr6:159006756..161320815 [GRCh37] Chr6:158926744..161240805 [NCBI36] Chr6:6q25.3-26	uncertain significance
GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	copy number gain	See cases [RCV000449011]	Chr6:151214792..170892243 [GRCh37] Chr6:6q25.1-27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	copy number gain	See cases [RCV000512067]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
NM_003057.3(SLC22A1):c.1276+9_1276+16del	microsatellite	not specified [RCV000455695]	Chr6:160139866..160139873 [GRCh38] Chr6:160560898..160560905 [GRCh37] Chr6:6q25.3	benign
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	copy number gain	See cases [RCV000510595]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3	copy number gain	not provided [RCV000682734]	Chr6:159844762..170919482 [GRCh37] Chr6:6q25.3-27	pathogenic
GRCh37/hg19 6q25.3-26(chr6:160524800-161855470)x3	copy number gain	not provided [RCV000682735]	Chr6:160524800..161855470 [GRCh37] Chr6:6q25.3-26	uncertain significance
46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	complex	Coffin-Siris syndrome 1 [RCV000714957]	Chr6:151443333..171115067 [GRCh37] Chr6:6q25.1-27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3	copy number gain	not provided [RCV000745400]	Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3	copy number gain	not provided [RCV000745403]	Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3	copy number gain	not provided [RCV000745404]	Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6q25.1-27(chr6:150284435-170919470)x3	copy number gain	not provided [RCV000746100]	Chr6:150284435..170919470 [GRCh37] Chr6:6q25.1-27	pathogenic
GRCh37/hg19 6q25.3-27(chr6:159155998-171054786)x3	copy number gain	not provided [RCV000746132]	Chr6:159155998..171054786 [GRCh37] Chr6:6q25.3-27	pathogenic
NM_003057.3(SLC22A1):c.908A>G (p.Asp303Gly)	single nucleotide variant	not specified [RCV004318580]	Chr6:160136288 [GRCh38] Chr6:160557320 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.493G>T (p.Gly165Cys)	single nucleotide variant	not provided [RCV000915757]	Chr6:160130185 [GRCh38] Chr6:160551217 [GRCh37] Chr6:6q25.3	benign
NM_003057.3(SLC22A1):c.558C>T (p.Asn186=)	single nucleotide variant	not provided [RCV000971537]	Chr6:160132274 [GRCh38] Chr6:160553306 [GRCh37] Chr6:6q25.3	benign
NM_003057.3(SLC22A1):c.523C>T (p.Arg175Cys)	single nucleotide variant	Aganglionic megacolon [RCV000984701]	Chr6:160132239 [GRCh38] Chr6:160553271 [GRCh37] Chr6:6q25.3	uncertain significance
GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	copy number gain	not provided [RCV003312672]	Chr6:159006336..170713678 [GRCh37] Chr6:6q25.3-27	uncertain significance
NM_003057.3(SLC22A1):c.1647A>C (p.Ser549=)	single nucleotide variant	not provided [RCV000961770]	Chr6:160158564 [GRCh38] Chr6:160579596 [GRCh37] Chr6:6q25.3	benign
NM_003057.3(SLC22A1):c.1392C>T (p.Leu464=)	single nucleotide variant	not provided [RCV000953970]	Chr6:160154804 [GRCh38] Chr6:160575836 [GRCh37] Chr6:6q25.3	benign
NM_003057.3(SLC22A1):c.849G>A (p.Pro283=)	single nucleotide variant	not provided [RCV000915674]	Chr6:160136229 [GRCh38] Chr6:160557261 [GRCh37] Chr6:6q25.3	likely benign
GRCh37/hg19 6q25.3(chr6:157262571-160992289)x3	copy number gain	not provided [RCV000848057]	Chr6:157262571..160992289 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.341G>A (p.Ser114Asn)	single nucleotide variant	not specified [RCV004305494]	Chr6:160122276 [GRCh38] Chr6:160543308 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.1412C>T (p.Ser471Phe)	single nucleotide variant	not specified [RCV004300926]	Chr6:160154824 [GRCh38] Chr6:160575856 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.1320G>A (p.Met440Ile)	single nucleotide variant	not provided [RCV000952913]	Chr6:160143584 [GRCh38] Chr6:160564616 [GRCh37] Chr6:6q25.3	benign
NM_003057.3(SLC22A1):c.1222A>G (p.Met408Val)	single nucleotide variant	not provided [RCV001691749]	Chr6:160139813 [GRCh38] Chr6:160560845 [GRCh37] Chr6:6q25.3	benign
GRCh37/hg19 6q25.2-26(chr6:153207930-164322346)	copy number loss	not specified [RCV002053640]	Chr6:153207930..164322346 [GRCh37] Chr6:6q25.2-26	pathogenic
NC_000006.11:g.(?_158532398)_(162868359_?)del	deletion	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003122912]\|not provided [RCV003122911]	Chr6:158532398..162868359 [GRCh37] Chr6:6q25.3-26	pathogenic\|no classifications from unflagged records
NM_003057.3(SLC22A1):c.599T>G (p.Met200Arg)	single nucleotide variant	not specified [RCV004329943]	Chr6:160132315 [GRCh38] Chr6:160553347 [GRCh37] Chr6:6q25.3	uncertain significance
GRCh37/hg19 6q25.3-27(chr6:159121459-170919482)	copy number loss	Hydrocephalus [RCV002280751]	Chr6:159121459..170919482 [GRCh37] Chr6:6q25.3-27	pathogenic
GRCh37/hg19 6q25.3-27(chr6:157318401-165233548)x1	copy number loss	See cases [RCV002287557]	Chr6:157318401..165233548 [GRCh37] Chr6:6q25.3-27	pathogenic
NM_003057.3(SLC22A1):c.1187C>T (p.Thr396Ile)	single nucleotide variant	not specified [RCV004092486]	Chr6:160139778 [GRCh38] Chr6:160560810 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.238G>A (p.Ala80Thr)	single nucleotide variant	not specified [RCV004153056]	Chr6:160122173 [GRCh38] Chr6:160543205 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.1108G>A (p.Ala370Thr)	single nucleotide variant	not specified [RCV004217876]	Chr6:160139699 [GRCh38] Chr6:160560731 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.74T>C (p.Leu25Ser)	single nucleotide variant	not specified [RCV004118055]	Chr6:160122009 [GRCh38] Chr6:160543041 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.524G>T (p.Arg175Leu)	single nucleotide variant	not specified [RCV004150624]	Chr6:160132240 [GRCh38] Chr6:160553272 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.453T>G (p.Phe151Leu)	single nucleotide variant	not specified [RCV004101805]	Chr6:160130145 [GRCh38] Chr6:160551177 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.704C>T (p.Thr235Met)	single nucleotide variant	not specified [RCV004130154]	Chr6:160133990 [GRCh38] Chr6:160555022 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.982G>A (p.Glu328Lys)	single nucleotide variant	not specified [RCV004178059]	Chr6:160136571 [GRCh38] Chr6:160557603 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.1661C>T (p.Thr554Ile)	single nucleotide variant	not specified [RCV004114570]	Chr6:160158578 [GRCh38] Chr6:160579610 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.1103T>C (p.Met368Thr)	single nucleotide variant	not specified [RCV004155318]	Chr6:160139694 [GRCh38] Chr6:160560726 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.1196G>A (p.Arg399His)	single nucleotide variant	not specified [RCV004075008]	Chr6:160139787 [GRCh38] Chr6:160560819 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.163G>T (p.Val55Leu)	single nucleotide variant	not specified [RCV004110299]	Chr6:160122098 [GRCh38] Chr6:160543130 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.503A>G (p.Tyr168Cys)	single nucleotide variant	not specified [RCV004155279]	Chr6:160130195 [GRCh38] Chr6:160551227 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.391G>A (p.Gly131Ser)	single nucleotide variant	not specified [RCV004194095]	Chr6:160122326 [GRCh38] Chr6:160543358 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.215A>G (p.Tyr72Cys)	single nucleotide variant	not specified [RCV004150667]	Chr6:160122150 [GRCh38] Chr6:160543182 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.539T>C (p.Leu180Pro)	single nucleotide variant	not specified [RCV004123573]	Chr6:160132255 [GRCh38] Chr6:160553287 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.125T>G (p.Leu42Arg)	single nucleotide variant	not specified [RCV004283680]	Chr6:160122060 [GRCh38] Chr6:160543092 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.1233G>C (p.Leu411Phe)	single nucleotide variant	not specified [RCV004278291]	Chr6:160139824 [GRCh38] Chr6:160560856 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.1265T>C (p.Phe422Ser)	single nucleotide variant	not specified [RCV004264036]	Chr6:160139856 [GRCh38] Chr6:160560888 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.118G>A (p.Val40Ile)	single nucleotide variant	not specified [RCV004340835]	Chr6:160122053 [GRCh38] Chr6:160543085 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.1316G>A (p.Arg439Gln)	single nucleotide variant	not specified [RCV004345854]	Chr6:160143580 [GRCh38] Chr6:160564612 [GRCh37] Chr6:6q25.3	uncertain significance
GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	copy number loss	See cases [RCV004442824]	Chr6:152853218..170914297 [GRCh37] Chr6:6q25.2-27	pathogenic
NM_003057.3(SLC22A1):c.638G>C (p.Ser213Thr)	single nucleotide variant	not specified [RCV004448703]	Chr6:160132354 [GRCh38] Chr6:160553386 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.1117G>A (p.Gly373Arg)	single nucleotide variant	not specified [RCV004448697]	Chr6:160139708 [GRCh38] Chr6:160560740 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.494G>A (p.Gly165Asp)	single nucleotide variant	not specified [RCV004448701]	Chr6:160130186 [GRCh38] Chr6:160551218 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.1073C>G (p.Ser358Cys)	single nucleotide variant	not specified [RCV004448696]	Chr6:160139664 [GRCh38] Chr6:160560696 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.1123C>T (p.Leu375Phe)	single nucleotide variant	not specified [RCV004448698]	Chr6:160139714 [GRCh38] Chr6:160560746 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.236C>T (p.Pro79Leu)	single nucleotide variant	not specified [RCV004448699]	Chr6:160122171 [GRCh38] Chr6:160543203 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.32T>C (p.Val11Ala)	single nucleotide variant	not specified [RCV004448700]	Chr6:160121967 [GRCh38] Chr6:160542999 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.505T>C (p.Phe169Leu)	single nucleotide variant	not specified [RCV004448702]	Chr6:160130197 [GRCh38] Chr6:160551229 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.967G>A (p.Glu323Lys)	single nucleotide variant	not specified [RCV004676561]	Chr6:160136556 [GRCh38] Chr6:160557588 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.169G>C (p.Glu57Gln)	single nucleotide variant	not specified [RCV004676562]	Chr6:160122104 [GRCh38] Chr6:160543136 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.1473G>T (p.Trp491Cys)	single nucleotide variant	not specified [RCV004676563]	Chr6:160154885 [GRCh38] Chr6:160575917 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.757G>A (p.Gly253Arg)	single nucleotide variant	not specified [RCV004676564]	Chr6:160134043 [GRCh38] Chr6:160555075 [GRCh37] Chr6:6q25.3	uncertain significance
NM_003057.3(SLC22A1):c.1623G>T (p.Thr541=)	single nucleotide variant	not specified [RCV004672204]	Chr6:160158540 [GRCh38] Chr6:160579572 [GRCh37] Chr6:6q25.3	likely benign

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1636
Count of miRNA genes:	739
Interacting mature miRNAs:	836
Transcripts:	ENST00000324965, ENST00000366963, ENST00000457470, ENST00000460902, ENST00000478607, ENST00000539263, ENST00000540443
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
407033410	GWAS682386_H	cholesteryl ester measurement QTL GWAS682386 (human)		2e-14	blood lipid amount (VT:0003949)		6	160146896	160146897	Human
407091266	GWAS740242_H	sleep duration, low density lipoprotein cholesterol measurement QTL GWAS740242 (human)		7e-18	sleep duration, low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160143444	160143445	Human
407038535	GWAS687511_H	triglycerides in chylomicrons and extremely large VLDL measurement QTL GWAS687511 (human)		2e-12	triglycerides in chylomicrons and extremely large VLDL measurement		6	160157037	160157038	Human
407304256	GWAS953232_H	serum metabolite measurement QTL GWAS953232 (human)		7e-20	serum metabolite measurement		6	160154334	160154335	Human
407063109	GWAS712085_H	low density lipoprotein cholesterol measurement QTL GWAS712085 (human)		2e-09	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160157828	160157829	Human
407070277	GWAS719253_H	total cholesterol measurement QTL GWAS719253 (human)		1e-14	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	6	160157828	160157829	Human
407070276	GWAS719252_H	total cholesterol measurement QTL GWAS719252 (human)		5e-15	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	6	160157828	160157829	Human
407024203	GWAS673179_H	cholesterol to total lipids in large VLDL percentage QTL GWAS673179 (human)		7e-10	cholesterol to total lipids in large VLDL percentage		6	160157037	160157038	Human
407029330	GWAS678306_H	low density lipoprotein cholesterol measurement QTL GWAS678306 (human)		6e-13	low density lipoprotein cholesterol measurement, phospholipid measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160146896	160146897	Human
407395929	GWAS1044905_H	isobutyrylcarnitine measurement QTL GWAS1044905 (human)		1e-27	isobutyrylcarnitine measurement		6	160143444	160143445	Human
407119446	GWAS768422_H	phospholipids in IDL measurement QTL GWAS768422 (human)		7e-13	phospholipids in IDL measurement	blood intermediate density lipoprotein phospholipid level (CMO:0001574)	6	160146896	160146897	Human
407062096	GWAS711072_H	suberoylcarnitine (C8-DC) measurement QTL GWAS711072 (human)		5e-22	suberoylcarnitine (C8-DC) measurement		6	160130454	160130455	Human
407037525	GWAS686501_H	cholesteryl ester measurement QTL GWAS686501 (human)		5e-12	blood lipid amount (VT:0003949)	blood lipid measurement (CMO:0000050)	6	160122116	160122117	Human
407114333	GWAS763309_H	apolipoprotein B measurement QTL GWAS763309 (human)		7e-14	apolipoprotein B measurement	blood apoliprotein B level (CMO:0000522)	6	160146896	160146897	Human
407038553	GWAS687529_H	free cholesterol in medium VLDL measurement QTL GWAS687529 (human)		1e-12	free cholesterol in medium VLDL measurement		6	160122116	160122117	Human
407065699	GWAS714675_H	1-methylnicotinamide measurement QTL GWAS714675 (human)		3e-12	1-methylnicotinamide measurement		6	160130454	160130455	Human
407236199	GWAS885175_H	apolipoprotein A 1 measurement, apolipoprotein B measurement QTL GWAS885175 (human)		2e-16	very low density lipoprotein cholesterol measurement	blood cholesterol level (CMO:0002280)	6	160122116	160122117	Human
407112294	GWAS761270_H	apolipoprotein B to apolipoprotein A1 ratio QTL GWAS761270 (human)		7e-12	apolipoprotein B to apolipoprotein A1 ratio		6	160146896	160146897	Human
406956649	GWAS605625_H	low density lipoprotein cholesterol measurement QTL GWAS605625 (human)		0.000005	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160154953	160154954	Human
407314029	GWAS963005_H	polyunsaturated fatty acid measurement QTL GWAS963005 (human)		4e-10	milk polyunsaturated fatty acid amount (VT:0010374)	milk polyunsaturated fatty acid measurement (CMO:0000821)	6	160122116	160122117	Human
407398500	GWAS1047476_H	bilirubin measurement QTL GWAS1047476 (human)		2e-15	bilirubin measurement	serum total bilirubin level (CMO:0000376)	6	160143444	160143445	Human
407064176	GWAS713152_H	metabolite measurement QTL GWAS713152 (human)		1e-11	metabolite measurement		6	160154805	160154806	Human
407069819	GWAS718795_H	total cholesterol measurement QTL GWAS718795 (human)		7e-11	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	6	160154953	160154954	Human
407069818	GWAS718794_H	total cholesterol measurement QTL GWAS718794 (human)		7e-14	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	6	160154953	160154954	Human
407069817	GWAS718793_H	total cholesterol measurement QTL GWAS718793 (human)		1e-15	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	6	160154334	160154335	Human
407069816	GWAS718792_H	total cholesterol measurement QTL GWAS718792 (human)		3e-13	low density lipoprotein cholesterol measurement, lipid measurement	blood lipid measurement (CMO:0000050)	6	160122116	160122117	Human
407093374	GWAS742350_H	3-methylglutarylcarnitine (2) measurement QTL GWAS742350 (human)		4e-16	3-methylglutarylcarnitine (2) measurement		6	160154334	160154335	Human
407115898	GWAS764874_H	cholesteryl ester measurement QTL GWAS764874 (human)		6e-11	blood lipid amount (VT:0003949)		6	160146896	160146897	Human
407321093	GWAS970069_H	isobutyrylcarnitine measurement QTL GWAS970069 (human)		6e-76	isobutyrylcarnitine measurement		6	160157828	160157829	Human
407258114	GWAS907090_H	phenylacetylcarnitine measurement QTL GWAS907090 (human)		1e-16	phenylacetylcarnitine measurement		6	160143444	160143445	Human
407296514	GWAS945490_H	total cholesterol measurement QTL GWAS945490 (human)		1e-16	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	6	160157037	160157038	Human
407032324	GWAS681300_H	low density lipoprotein cholesterol measurement QTL GWAS681300 (human)		4e-11	phospholipids:total lipids ratio	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160146896	160146897	Human
407095306	GWAS744282_H	X-11381 measurement QTL GWAS744282 (human)		7e-66	X-11381 measurement		6	160122116	160122117	Human
407308296	GWAS957272_H	low density lipoprotein cholesterol measurement QTL GWAS957272 (human)		5e-34	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160136611	160136612	Human
407259671	GWAS908647_H	creatinine measurement QTL GWAS908647 (human)		1e-19	creatinine measurement	blood creatinine measurement (CMO:0000767)	6	160154170	160154171	Human
407311889	GWAS960865_H	free cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS960865 (human)		2e-17	free cholesterol measurement, very low density lipoprotein cholesterol measurement	blood very low density lipoprotein cholesterol level (CMO:0000648)	6	160122116	160122117	Human
407074325	GWAS723301_H	phospholipids:total lipids ratio QTL GWAS723301 (human)		8e-10	phospholipids:total lipids ratio		6	160130061	160130062	Human
407354910	GWAS1003886_H	glomerular filtration rate QTL GWAS1003886 (human)		8e-37	glomerular filtration rate	glomerular filtration rate (CMO:0000490)	6	160143444	160143445	Human
407386130	GWAS1035106_H	metabolite measurement QTL GWAS1035106 (human)		1e-49	metabolite measurement		6	160143444	160143445	Human
407386131	GWAS1035107_H	metabolite measurement QTL GWAS1035107 (human)		1e-33	metabolite measurement		6	160143444	160143445	Human
407075870	GWAS724846_H	cholesteryl esters to total lipids in chylomicrons and extremely large VLDL percentage QTL GWAS724846 (human)		7e-12	cholesteryl esters to total lipids in chylomicrons and extremely large VLDL percentage		6	160157037	160157038	Human
407034397	GWAS683373_H	total cholesterol measurement QTL GWAS683373 (human)		9e-13	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	6	160146896	160146897	Human
407182886	GWAS831862_H	very low density lipoprotein cholesterol measurement QTL GWAS831862 (human)		2e-11	omega-6 polyunsaturated fatty acid measurement	blood very low density lipoprotein cholesterol level (CMO:0000648)	6	160122116	160122117	Human
406891043	GWAS540019_H	gout QTL GWAS540019 (human)		0.0000001	gout		6	160130172	160130173	Human
407089184	GWAS738160_H	X-24518 measurement QTL GWAS738160 (human)		6e-11	X-24518 measurement		6	160130172	160130173	Human
407351330	GWAS1000306_H	fatty acid measurement QTL GWAS1000306 (human)		9e-10	fatty acid measurement		6	160143444	160143445	Human
407131177	GWAS780153_H	triglyceride:HDL cholesterol ratio QTL GWAS780153 (human)		1e-11	fatty acid measurement		6	160122116	160122117	Human
407308854	GWAS957830_H	lipoprotein A measurement QTL GWAS957830 (human)		2e-13	lipoprotein A measurement		6	160122298	160122299	Human
406900785	GWAS549761_H	plasma betaine measurement QTL GWAS549761 (human)		4e-29	plasma betaine measurement		6	160130454	160130455	Human
407351862	GWAS1000838_H	carnitine measurement QTL GWAS1000838 (human)		6e-86	blood carnitine amount (VT:0003977)		6	160143444	160143445	Human
407182908	GWAS831884_H	very low density lipoprotein cholesterol measurement, phospholipid measurement QTL GWAS831884 (human)		3e-12	lipid measurement, lipoprotein measurement	blood lipoprotein measurement (CMO:0002690)	6	160122116	160122117	Human
407024696	GWAS673672_H	isobutyrylcarnitine measurement QTL GWAS673672 (human)		4e-54	isobutyrylcarnitine measurement		6	160122116	160122117	Human
407024697	GWAS673673_H	isobutyrylcarnitine measurement QTL GWAS673673 (human)		4e-28	isobutyrylcarnitine measurement		6	160139792	160139793	Human
407081533	GWAS730509_H	X-24422 measurement QTL GWAS730509 (human)		3e-57	X-24422 measurement		6	160122116	160122117	Human
407131845	GWAS780821_H	triglyceride:HDL cholesterol ratio QTL GWAS780821 (human)		4e-09	glycoprotein measurement		6	160122116	160122117	Human
407328454	GWAS977430_H	suberoylcarnitine (C8-DC) measurement QTL GWAS977430 (human)		4e-13	suberoylcarnitine (C8-DC) measurement		6	160154953	160154954	Human
407380684	GWAS1029660_H	hexanoylcarnitine measurement QTL GWAS1029660 (human)		2e-24	hexanoylcarnitine measurement		6	160143444	160143445	Human
407041734	GWAS690710_H	cholesteryl ester measurement QTL GWAS690710 (human)		3e-13	blood lipid amount (VT:0003949)		6	160146896	160146897	Human
406928073	GWAS577049_H	X-11381 measurement QTL GWAS577049 (human)		2e-29	X-11381 measurement		6	160122116	160122117	Human
407311564	GWAS960540_H	lipoprotein A measurement QTL GWAS960540 (human)		7e-58	lipoprotein A measurement		6	160139792	160139793	Human
406917837	GWAS566813_H	low density lipoprotein cholesterol measurement QTL GWAS566813 (human)		3e-44	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160122116	160122117	Human
407065807	GWAS714783_H	metabolite measurement QTL GWAS714783 (human)		3e-34	metabolite measurement		6	160122116	160122117	Human
406955725	GWAS604701_H	total cholesterol measurement QTL GWAS604701 (human)		9e-14	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	6	160122116	160122117	Human
406928076	GWAS577052_H	X-11381 measurement QTL GWAS577052 (human)		1e-12	X-11381 measurement		6	160157828	160157829	Human
407160010	GWAS808986_H	urinary metabolite measurement QTL GWAS808986 (human)		5e-08	urinary metabolite measurement		6	160130454	160130455	Human
407310537	GWAS959513_H	lipoprotein A measurement QTL GWAS959513 (human)		1e-138	lipoprotein A measurement		6	160136611	160136612	Human
407062739	GWAS711715_H	argininate measurement QTL GWAS711715 (human)		6e-19	argininate measurement		6	160130454	160130455	Human
407323862	GWAS972838_H	low density lipoprotein cholesterol measurement QTL GWAS972838 (human)		5e-10	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160146896	160146897	Human
407236311	GWAS885287_H	intermediate density lipoprotein measurement QTL GWAS885287 (human)		8e-15	intermediate density lipoprotein measurement	blood intermediate density lipoprotein cholesterol level (CMO:0001562)	6	160122116	160122117	Human
407062737	GWAS711713_H	argininate measurement QTL GWAS711713 (human)		5e-20	suberoylcarnitine (C8-DC) measurement		6	160130454	160130455	Human
407065808	GWAS714784_H	metabolite measurement QTL GWAS714784 (human)		9e-30	metabolite measurement		6	160122116	160122117	Human
407381212	GWAS1030188_H	isobutyrylcarnitine measurement QTL GWAS1030188 (human)		4e-119	isobutyrylcarnitine measurement		6	160143444	160143445	Human
407031512	GWAS680488_H	total lipids in IDL QTL GWAS680488 (human)		4e-12	total lipids in IDL		6	160146896	160146897	Human
407368412	GWAS1017388_H	serum gamma-glutamyl transferase measurement QTL GWAS1017388 (human)		1e-12	serum gamma-glutamyl transferase measurement	serum gamma-glutamyltransferase activity level (CMO:0002241)	6	160143444	160143445	Human
407314651	GWAS963627_H	lipoprotein A measurement QTL GWAS963627 (human)		5e-39	lipoprotein A measurement		6	160139123	160139124	Human
407007452	GWAS656428_H	metabolite measurement QTL GWAS656428 (human)		8e-14	metabolite measurement		6	160130454	160130455	Human
407309529	GWAS958505_H	low density lipoprotein cholesterol measurement QTL GWAS958505 (human)		1e-39	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160154170	160154171	Human
407309542	GWAS958518_H	low density lipoprotein cholesterol measurement QTL GWAS958518 (human)		2e-12	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160146896	160146897	Human
407041760	GWAS690736_H	concentration of large LDL particles measurement QTL GWAS690736 (human)		8e-12	concentration of large LDL particles measurement		6	160146896	160146897	Human
407326435	GWAS975411_H	cholesteryl ester measurement, low density lipoprotein cholesterol measurement QTL GWAS975411 (human)		4e-16	blood lipid amount (VT:0003949)	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160122116	160122117	Human
407270112	GWAS919088_H	total cholesterol measurement, intermediate density lipoprotein measurement QTL GWAS919088 (human)		8e-09	total cholesterol measurement, intermediate density lipoprotein measurement	blood intermediate density lipoprotein cholesterol level (CMO:0001562)	6	160122116	160122117	Human
407257325	GWAS906301_H	total cholesterol measurement, low density lipoprotein cholesterol measurement QTL GWAS906301 (human)		1e-13	low density lipoprotein cholesterol measurement, phospholipid measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160122116	160122117	Human
407269099	GWAS918075_H	carnitine measurement QTL GWAS918075 (human)		4e-27	blood carnitine amount (VT:0003977)		6	160122116	160122117	Human
406989549	GWAS638525_H	lipoprotein A measurement QTL GWAS638525 (human)		3e-14	lipoprotein A measurement		6	160148036	160148037	Human
407094007	GWAS742983_H	metabolite measurement QTL GWAS742983 (human)		1e-21	metabolite measurement		6	160122116	160122117	Human
407345395	GWAS994371_H	triglyceride measurement QTL GWAS994371 (human)		1e-12	triglyceride measurement	blood triglyceride level (CMO:0000118)	6	160136611	160136612	Human
407037174	GWAS686150_H	total lipids in very small VLDL measurement QTL GWAS686150 (human)		3e-10	total lipids in very small VLDL measurement		6	160154334	160154335	Human
407025398	GWAS674374_H	low density lipoprotein cholesterol measurement QTL GWAS674374 (human)		2e-17	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160157828	160157829	Human
407037172	GWAS686148_H	total lipids in very small VLDL measurement QTL GWAS686148 (human)		6e-15	total lipids in very small VLDL measurement		6	160122116	160122117	Human
407089909	GWAS738885_H	triglycerides in small HDL measurement QTL GWAS738885 (human)		8e-10	triglycerides in small HDL measurement	blood high density lipoprotein triglyceride level (CMO:0002686)	6	160122116	160122117	Human
407309040	GWAS958016_H	apolipoprotein B measurement QTL GWAS958016 (human)		7e-17	apolipoprotein B measurement	blood apoliprotein B level (CMO:0000522)	6	160122116	160122117	Human
407026430	GWAS675406_H	3,4-methyleneheptanoate measurement QTL GWAS675406 (human)		9e-13	3,4-methyleneheptanoate measurement		6	160157828	160157829	Human
407030406	GWAS679382_H	free cholesterol in very small VLDL measurement QTL GWAS679382 (human)		7e-15	free cholesterol in very small VLDL measurement		6	160146896	160146897	Human
407237760	GWAS886736_H	apolipoprotein B measurement QTL GWAS886736 (human)		2e-15	apolipoprotein B measurement	blood apoliprotein B level (CMO:0000522)	6	160157037	160157038	Human
407325313	GWAS974289_H	triglyceride measurement, very low density lipoprotein cholesterol measurement QTL GWAS974289 (human)		4e-08	triglyceride measurement, very low density lipoprotein cholesterol measurement	blood very low density lipoprotein cholesterol level (CMO:0000648)	6	160137589	160137591	Human
407380110	GWAS1029086_H	butyrylcarnitine measurement QTL GWAS1029086 (human)		2e-23	butyrylcarnitine measurement		6	160143444	160143445	Human
407367296	GWAS1016272_H	total cholesterol measurement QTL GWAS1016272 (human)		3e-53	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	6	160143444	160143445	Human
407096971	GWAS745947_H	cholesteryl esters to total lipids in large VLDL percentage QTL GWAS745947 (human)		1e-10	cholesteryl esters to total lipids in large VLDL percentage		6	160157037	160157038	Human
407038088	GWAS687064_H	free cholesterol in large VLDL measurement QTL GWAS687064 (human)		3e-11	butyrylcarnitine (C4) measurement		6	160122116	160122117	Human
407312524	GWAS961500_H	cholesteryl ester measurement, very low density lipoprotein cholesterol measurement QTL GWAS961500 (human)		6e-20	blood lipid amount (VT:0003949)	blood very low density lipoprotein cholesterol level (CMO:0000648)	6	160122116	160122117	Human
407339657	GWAS988633_H	cholesteryl ester measurement, chylomicron measurement, very low density lipoprotein cholesterol measurement QTL GWAS988633 (human)		5e-09	blood lipid amount (VT:0003949)	blood very low density lipoprotein cholesterol level (CMO:0000648)	6	160137589	160137591	Human
407268489	GWAS917465_H	amino acid measurement QTL GWAS917465 (human)		0.0000006	amino acid measurement		6	160130454	160130455	Human
407037586	GWAS686562_H	cholesteryl ester measurement QTL GWAS686562 (human)		2e-14	blood lipid amount (VT:0003949)	blood total cholesterol level (CMO:0000051)	6	160122116	160122117	Human
407188127	GWAS837103_H	low density lipoprotein cholesterol measurement, phospholipid measurement QTL GWAS837103 (human)		3e-12	lipid measurement, intermediate density lipoprotein measurement	blood intermediate density lipoprotein cholesterol level (CMO:0001562)	6	160146896	160146897	Human
407292060	GWAS941036_H	glomerular filtration rate QTL GWAS941036 (human)		2e-49	glomerular filtration rate	glomerular filtration rate (CMO:0000490)	6	160146896	160146897	Human
407356058	GWAS1005034_H	glomerular filtration rate QTL GWAS1005034 (human)		2e-22	glomerular filtration rate	glomerular filtration rate (CMO:0000490)	6	160143444	160143445	Human
407250584	GWAS899560_H	serum metabolite measurement QTL GWAS899560 (human)		6e-12	serum metabolite measurement		6	160154334	160154335	Human
407356056	GWAS1005032_H	bilirubin measurement QTL GWAS1005032 (human)		4e-19	bilirubin measurement	serum total bilirubin level (CMO:0000376)	6	160143444	160143445	Human
407354023	GWAS1002999_H	low density lipoprotein cholesterol measurement QTL GWAS1002999 (human)		4e-60	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160143444	160143445	Human
407387305	GWAS1036281_H	isobutyrylcarnitine measurement QTL GWAS1036281 (human)		5e-49	isobutyrylcarnitine measurement		6	160143444	160143445	Human
407387307	GWAS1036283_H	X-03056--N-[3- 2-Oxopyrrolidin-1-yl propyl]acetamide measurement QTL GWAS1036283 (human)		1e-22	X-03056--N-[3- 2-Oxopyrrolidin-1-yl propyl]acetamide measurement		6	160143444	160143445	Human
407090858	GWAS739834_H	metabolite measurement QTL GWAS739834 (human)		2e-11	metabolite measurement		6	160154805	160154806	Human
407025321	GWAS674297_H	total cholesterol measurement QTL GWAS674297 (human)		1e-16	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	6	160157828	160157829	Human
407387301	GWAS1036277_H	propionylcarnitine measurement QTL GWAS1036277 (human)		3e-14	propionylcarnitine measurement		6	160143444	160143445	Human
407387302	GWAS1036278_H	X-11261 measurement QTL GWAS1036278 (human)		9e-25	X-11261 measurement		6	160143444	160143445	Human
407035565	GWAS684541_H	cholesteryl ester measurement QTL GWAS684541 (human)		7e-13	blood lipid amount (VT:0003949)		6	160122116	160122117	Human
407024813	GWAS673789_H	3-methylglutarylcarnitine (2) measurement QTL GWAS673789 (human)		2e-22	3-methylglutarylcarnitine (2) measurement		6	160122116	160122117	Human
406991538	GWAS640514_H	total cholesterol measurement QTL GWAS640514 (human)		0.0000007	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	6	160157828	160157829	Human
407255217	GWAS904193_H	fatty acid measurement QTL GWAS904193 (human)		4e-11	fatty acid measurement		6	160122116	160122117	Human
407064756	GWAS713732_H	adipoylcarnitine (C6-DC) measurement QTL GWAS713732 (human)		3e-13	adipoylcarnitine (C6-DC) measurement		6	160130454	160130455	Human
407163069	GWAS812045_H	serum metabolite measurement QTL GWAS812045 (human)		5e-15	serum metabolite measurement		6	160143444	160143445	Human
407328957	GWAS977933_H	fatty acid measurement QTL GWAS977933 (human)		2e-10	fatty acid measurement		6	160122116	160122117	Human
407064253	GWAS713229_H	propionylcarnitine (C3) measurement QTL GWAS713229 (human)		9e-13	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160122116	160122117	Human
406920513	GWAS569489_H	triglyceride measurement QTL GWAS569489 (human)		2e-09	triglyceride measurement	blood triglyceride level (CMO:0000118)	6	160141449	160141450	Human
407077696	GWAS726672_H	triglycerides to total lipids in chylomicrons and extremely large VLDL percentage QTL GWAS726672 (human)		5e-11	triglycerides to total lipids in chylomicrons and extremely large VLDL percentage		6	160157037	160157038	Human
407340356	GWAS989332_H	low density lipoprotein cholesterol measurement QTL GWAS989332 (human)		1e-18	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160157037	160157038	Human
407063881	GWAS712857_H	acisoga measurement QTL GWAS712857 (human)		3e-12	acisoga measurement		6	160148036	160148037	Human
406989129	GWAS638105_H	total cholesterol measurement QTL GWAS638105 (human)		0.000006	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	6	160154334	160154335	Human
406952269	GWAS601245_H	parental longevity QTL GWAS601245 (human)		0.0000009	parental longevity		6	160153770	160153771	Human
407255883	GWAS904859_H	butyrylcarnitine measurement QTL GWAS904859 (human)		1e-10	butyrylcarnitine measurement		6	160139792	160139793	Human
407329610	GWAS978586_H	succinylcarnitine measurement QTL GWAS978586 (human)		6e-11	succinylcarnitine measurement		6	160153503	160153504	Human
407095118	GWAS744094_H	pimeloylcarnitine/3-methyladipoylcarnitine (C7-DC) measurement QTL GWAS744094 (human)		5e-24	pimeloylcarnitine/3-methyladipoylcarnitine (C7-DC) measurement		6	160154334	160154335	Human
407095117	GWAS744093_H	pimeloylcarnitine/3-methyladipoylcarnitine (C7-DC) measurement QTL GWAS744093 (human)		1e-13	pimeloylcarnitine/3-methyladipoylcarnitine (C7-DC) measurement		6	160139792	160139793	Human
407095116	GWAS744092_H	pimeloylcarnitine/3-methyladipoylcarnitine (C7-DC) measurement QTL GWAS744092 (human)		5e-26	pimeloylcarnitine/3-methyladipoylcarnitine (C7-DC) measurement		6	160122116	160122117	Human
407089484	GWAS738460_H	urinary metabolite measurement QTL GWAS738460 (human)		2e-13	urinary metabolite measurement		6	160143444	160143445	Human
407352151	GWAS1001127_H	carnitine measurement QTL GWAS1001127 (human)		7e-22	blood carnitine amount (VT:0003977)		6	160143444	160143445	Human
407237460	GWAS886436_H	phospholipid measurement, intermediate density lipoprotein measurement QTL GWAS886436 (human)		2e-13	phospholipid measurement, intermediate density lipoprotein measurement	blood intermediate density lipoprotein cholesterol level (CMO:0001562)	6	160122116	160122117	Human
407062359	GWAS711335_H	acisoga measurement QTL GWAS711335 (human)		2e-14	acisoga measurement		6	160130454	160130455	Human
407063895	GWAS712871_H	metabolite measurement QTL GWAS712871 (human)		4e-12	metabolite measurement		6	160154805	160154806	Human
407196496	GWAS845472_H	cation-independent mannose-6-phosphate receptor measurement QTL GWAS845472 (human)		5e-14	cation-independent mannose-6-phosphate receptor measurement		6	160149082	160149083	Human
407064916	GWAS713892_H	HOMA-B QTL GWAS713892 (human)		8e-08	HOMA-B	Homeostatic Model Assessment of Beta cell function (CMO:0003211)	6	160147864	160147865	Human
407314270	GWAS963246_H	lipoprotein A measurement QTL GWAS963246 (human)		4e-379	lipoprotein A measurement		6	160154170	160154171	Human
407024984	GWAS673960_H	X-11381 measurement QTL GWAS673960 (human)		1e-27	X-11381 measurement		6	160122116	160122117	Human
407011672	GWAS660648_H	HMG CoA reductase inhibitor use measurement QTL GWAS660648 (human)		1e-13	HMG CoA reductase inhibitor use measurement		6	160149082	160149083	Human
407024985	GWAS673961_H	X-11381 measurement QTL GWAS673961 (human)		8e-12	X-11381 measurement		6	160139792	160139793	Human
407127897	GWAS776873_H	color vision disorder QTL GWAS776873 (human)		0.000007	color vision disorder		6	160156711	160156712	Human
407284582	GWAS933558_H	triglyceride measurement, very low density lipoprotein cholesterol measurement QTL GWAS933558 (human)		4e-08	triglyceride measurement, very low density lipoprotein cholesterol measurement	blood very low density lipoprotein cholesterol level (CMO:0000648)	6	160138410	160138411	Human
407047523	GWAS696499_H	low density lipoprotein cholesterol measurement QTL GWAS696499 (human)		3e-21	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160157828	160157829	Human
407309667	GWAS958643_H	chylomicron measurement, very low density lipoprotein cholesterol measurement, lipid measurement QTL GWAS958643 (human)		3e-08	chylomicron measurement, total cholesterol measurement, very low density lipoprotein cholesterol measurement	blood total cholesterol level (CMO:0000051)	6	160137589	160137591	Human
407384429	GWAS1033405_H	propionylcarnitine measurement QTL GWAS1033405 (human)		3e-39	propionylcarnitine measurement		6	160143444	160143445	Human
407365486	GWAS1014462_H	aspartate aminotransferase measurement QTL GWAS1014462 (human)		3e-10	aspartate aminotransferase measurement	blood aspartate aminotransferase activity level (CMO:0000580)	6	160143444	160143445	Human
407095145	GWAS744121_H	X-12117 measurement QTL GWAS744121 (human)		7e-22	X-12117 measurement		6	160130172	160130173	Human
407286122	GWAS935098_H	body height QTL GWAS935098 (human)		4e-20	body height (VT:0001253)	body height (CMO:0000106)	6	160134722	160134723	Human
407318379	GWAS967355_H	low density lipoprotein cholesterol measurement QTL GWAS967355 (human)		2e-12	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160135165	160135166	Human
407023983	GWAS672959_H	cholesteryl esters to total lipids in very large VLDL percentage QTL GWAS672959 (human)		5e-10	cholesteryl esters to total lipids in very large VLDL percentage		6	160157037	160157038	Human
407386983	GWAS1035959_H	acute myeloid leukemia QTL GWAS1035959 (human)		2e-09	acute myeloid leukemia		6	160134722	160134723	Human
407036786	GWAS685762_H	triglycerides in small LDL measurement QTL GWAS685762 (human)		6e-11	triglycerides in small LDL measurement		6	160122116	160122117	Human
407328630	GWAS977606_H	propionylcarnitine (C3) measurement QTL GWAS977606 (human)		8e-15	propionylcarnitine (C3) measurement		6	160134722	160134723	Human
407098231	GWAS747207_H	isobutyrylcarnitine measurement QTL GWAS747207 (human)		1e-41	isobutyrylcarnitine measurement		6	160130454	160130455	Human
407380348	GWAS1029324_H	butyrylcarnitine measurement QTL GWAS1029324 (human)		3e-42	butyrylcarnitine measurement		6	160143444	160143445	Human
407144305	GWAS793281_H	metabolite measurement QTL GWAS793281 (human)		7e-25	metabolite measurement		6	160143444	160143445	Human
407380336	GWAS1029312_H	X-11261 measurement QTL GWAS1029312 (human)		3e-32	X-11261 measurement		6	160143444	160143445	Human
407097722	GWAS746698_H	triglyceride measurement QTL GWAS746698 (human)		2e-09	triglyceride measurement	blood triglyceride level (CMO:0000118)	6	160122116	160122117	Human
407153022	GWAS801998_H	urinary metabolite measurement QTL GWAS801998 (human)		8e-16	urinary metabolite measurement		6	160122116	160122117	Human
407097721	GWAS746697_H	triglyceride measurement QTL GWAS746697 (human)		9e-09	triglyceride measurement	blood triglyceride level (CMO:0000118)	6	160122116	160122117	Human
407288700	GWAS937676_H	low density lipoprotein cholesterol measurement, phospholipid measurement QTL GWAS937676 (human)		6e-14	low density lipoprotein cholesterol measurement, phospholipid measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160122116	160122117	Human
407034745	GWAS683721_H	phospholipids in large VLDL measurement QTL GWAS683721 (human)		7e-11	phospholipids in large VLDL measurement	blood very low density lipoprotein phospholipid level (CMO:0001571)	6	160122116	160122117	Human
407098232	GWAS747208_H	isobutyrylcarnitine measurement QTL GWAS747208 (human)		2e-14	isobutyrylcarnitine measurement		6	160139792	160139793	Human
407066492	GWAS715468_H	total cholesterol measurement QTL GWAS715468 (human)		1e-08	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	6	160157828	160157829	Human
407254280	GWAS903256_H	propionylcarnitine measurement QTL GWAS903256 (human)		8e-12	propionylcarnitine measurement		6	160130172	160130173	Human
407320854	GWAS969830_H	very low density lipoprotein cholesterol measurement, phospholipid measurement QTL GWAS969830 (human)		2e-18	free cholesterol measurement, very low density lipoprotein cholesterol measurement	blood cholesterol level (CMO:0002280)	6	160122116	160122117	Human
407324949	GWAS973925_H	very low density lipoprotein cholesterol measurement, phospholipids:total lipids ratio QTL GWAS973925 (human)		1e-09	very low density lipoprotein cholesterol measurement, phospholipids:total lipids ratio	blood very low density lipoprotein cholesterol level (CMO:0000648)	6	160130454	160130455	Human
407310623	GWAS959599_H	chylomicron measurement, very low density lipoprotein cholesterol measurement, phospholipids:total lipids ratio QTL GWAS959599 (human)		6e-14	chylomicron measurement, very low density lipoprotein cholesterol measurement, phospholipids:total lipids ratio	blood very low density lipoprotein cholesterol level (CMO:0000648)	6	160130061	160130062	Human
407333151	GWAS982127_H	3-methylglutarylcarnitine (2) measurement QTL GWAS982127 (human)		2e-18	3-methylglutarylcarnitine (2) measurement		6	160151525	160151526	Human
407333662	GWAS982638_H	very low density lipoprotein cholesterol measurement QTL GWAS982638 (human)		1e-19	very low density lipoprotein cholesterol measurement	blood very low density lipoprotein cholesterol level (CMO:0000648)	6	160122116	160122117	Human
407310105	GWAS959081_H	linoleic acid measurement QTL GWAS959081 (human)		2e-12	linoleic acid measurement	blood cholesterol level (CMO:0002280)	6	160122116	160122117	Human
407329063	GWAS978039_H	non-high density lipoprotein cholesterol measurement QTL GWAS978039 (human)		5e-09	non-high density lipoprotein cholesterol measurement	blood non-high density lipoprotein cholesterol level (CMO:0003967)	6	160135165	160135166	Human
406925088	GWAS574064_H	plasma betaine measurement QTL GWAS574064 (human)		3e-23	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	6	160157828	160157829	Human
407310629	GWAS959605_H	citrate measurement QTL GWAS959605 (human)		2e-08	citrate measurement		6	160154953	160154954	Human
406903589	GWAS552565_H	low density lipoprotein cholesterol measurement QTL GWAS552565 (human)		8e-13	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160122116	160122117	Human
407037223	GWAS686199_H	total lipids in small LDL QTL GWAS686199 (human)		8e-12	total lipids in small LDL		6	160122116	160122117	Human
407087398	GWAS736374_H	urinary metabolite measurement QTL GWAS736374 (human)		3e-13	serotonin measurement		6	160143444	160143445	Human
407380269	GWAS1029245_H	acetylcarnitine measurement QTL GWAS1029245 (human)		4e-11	acetylcarnitine measurement		6	160143444	160143445	Human
406903590	GWAS552566_H	low density lipoprotein cholesterol measurement QTL GWAS552566 (human)		5e-13	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	6	160122116	160122117	Human
407380270	GWAS1029246_H	Adenine measurement QTL GWAS1029246 (human)		7e-09	Adenine measurement		6	160143444	160143445	Human
406903591	GWAS552567_H	low density lipoprotein cholesterol measurement QTL GWAS552567 (human)		5e-16	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160154334	160154335	Human
407268654	GWAS917630_H	apolipoprotein B measurement QTL GWAS917630 (human)		4e-35	apolipoprotein B measurement	blood apoliprotein B level (CMO:0000522)	6	160154170	160154171	Human
406903592	GWAS552568_H	low density lipoprotein cholesterol measurement QTL GWAS552568 (human)		2e-15	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160154334	160154335	Human
407033643	GWAS682619_H	phospholipids in LDL measurement QTL GWAS682619 (human)		3e-11	phospholipids in LDL measurement	blood low density lipoprotein phospholipid level (CMO:0001568)	6	160146896	160146897	Human
406903593	GWAS552569_H	low density lipoprotein cholesterol measurement QTL GWAS552569 (human)		5e-16	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160154953	160154954	Human
406903594	GWAS552570_H	low density lipoprotein cholesterol measurement QTL GWAS552570 (human)		2e-13	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160154953	160154954	Human
406903595	GWAS552571_H	low density lipoprotein cholesterol measurement QTL GWAS552571 (human)		1e-15	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160157828	160157829	Human
407066415	GWAS715391_H	N-acetylarginine measurement QTL GWAS715391 (human)		2e-18	N-acetylarginine measurement		6	160130454	160130455	Human
407077679	GWAS726655_H	isovalerylcarnitine measurement QTL GWAS726655 (human)		2e-10	isovalerylcarnitine measurement		6	160154334	160154335	Human
406903596	GWAS552572_H	low density lipoprotein cholesterol measurement QTL GWAS552572 (human)		6e-15	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160157828	160157829	Human
407063342	GWAS712318_H	butyrylcarnitine (C4) measurement QTL GWAS712318 (human)		1e-17	butyrylcarnitine (C4) measurement		6	160122116	160122117	Human
407074606	GWAS723582_H	cholesterol to total lipids in chylomicrons and extremely large VLDL percentage QTL GWAS723582 (human)		6e-13	cholesterol to total lipids in chylomicrons and extremely large VLDL percentage		6	160157037	160157038	Human
407268660	GWAS917636_H	apolipoprotein B measurement QTL GWAS917636 (human)		8e-33	apolipoprotein B measurement	blood apoliprotein B level (CMO:0000522)	6	160136611	160136612	Human
407329589	GWAS978565_H	X-24422 measurement QTL GWAS978565 (human)		2e-18	X-24422 measurement		6	160157828	160157829	Human
407183152	GWAS832128_H	isobutyrylcarnitine measurement QTL GWAS832128 (human)		3e-09	isobutyrylcarnitine measurement		6	160157828	160157829	Human
407414591	GWAS1063567_H	body height QTL GWAS1063567 (human)		7e-36	body height (VT:0001253)	body height (CMO:0000106)	6	160143444	160143445	Human
407091508	GWAS740484_H	metabolite measurement QTL GWAS740484 (human)		2e-33	metabolite measurement		6	160154334	160154335	Human
407035704	GWAS684680_H	phospholipids in very small VLDL measurement QTL GWAS684680 (human)		2e-15	phospholipids in very small VLDL measurement		6	160122116	160122117	Human
407308605	GWAS957581_H	lipoprotein A measurement QTL GWAS957581 (human)		1e-19	lipoprotein A measurement		6	160155979	160155980	Human
407380276	GWAS1029252_H	isobutyrylcarnitine measurement QTL GWAS1029252 (human)		2e-211	isobutyrylcarnitine measurement		6	160143444	160143445	Human
407333690	GWAS982666_H	IGF-1 measurement QTL GWAS982666 (human)		3e-09	IGF-1 measurement	blood insulin-like growth factor 1 level (CMO:0001297)	6	160154170	160154171	Human
407328058	GWAS977034_H	adipoylcarnitine (C6-DC) measurement QTL GWAS977034 (human)		3e-11	adipoylcarnitine (C6-DC) measurement		6	160154334	160154335	Human
1643367	BW323_H	Body weight QTL 323 (human)	2.42	0.0005	Body fat amount		6	157563614	170805979	Human
406913855	GWAS562831_H	4-guanidinobutanoate measurement QTL GWAS562831 (human)		1e-18	blood lipid amount (VT:0003949)	blood very low density lipoprotein cholesterol level (CMO:0000648)	6	160122116	160122117	Human
407274435	GWAS923411_H	essential hypertension, age at diagnosis QTL GWAS923411 (human)		3e-08	essential hypertension, age at diagnosis		6	160136611	160136612	Human
407061448	GWAS710424_H	metabolite measurement QTL GWAS710424 (human)		7e-14	metabolite measurement		6	160130454	160130455	Human
406901708	GWAS550684_H	beta-hydroxyisovalerate measurement QTL GWAS550684 (human)		5e-14	very low density lipoprotein cholesterol measurement, lipid measurement	blood lipid measurement (CMO:0000050)	6	160122116	160122117	Human
407289290	GWAS938266_H	free cholesterol measurement, low density lipoprotein cholesterol measurement QTL GWAS938266 (human)		2e-10	free cholesterol measurement, low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160146896	160146897	Human
407062989	GWAS711965_H	isobutyrylcarnitine measurement QTL GWAS711965 (human)		2e-52	isobutyrylcarnitine measurement		6	160122116	160122117	Human
407092685	GWAS741661_H	metabolite measurement QTL GWAS741661 (human)		1e-15	very low density lipoprotein cholesterol measurement, lipid measurement	blood lipid measurement (CMO:0000050)	6	160122116	160122117	Human
407288776	GWAS937752_H	very low density lipoprotein cholesterol measurement, phospholipid measurement QTL GWAS937752 (human)		4e-17	free cholesterol measurement, very low density lipoprotein cholesterol measurement	blood cholesterol level (CMO:0002280)	6	160122116	160122117	Human
407121355	GWAS770331_H	low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS770331 (human)		4e-15	low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160122116	160122117	Human
407189450	GWAS838426_H	free cholesterol measurement, low density lipoprotein cholesterol measurement QTL GWAS838426 (human)		3e-10	free cholesterol measurement, low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160146896	160146897	Human
407327703	GWAS976679_H	total cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS976679 (human)		3e-19	very low density lipoprotein cholesterol measurement, lipid measurement	blood lipid measurement (CMO:0000050)	6	160122116	160122117	Human
407102417	GWAS751393_H	argininate measurement QTL GWAS751393 (human)		5e-11	argininate measurement		6	160139792	160139793	Human
407092689	GWAS741665_H	metabolite measurement QTL GWAS741665 (human)		3e-16	metabolite measurement		6	160154334	160154335	Human
1643404	BMD3_H	Bone mineral density QTL 3 (human)	2.42	0.0005	Bone mineral density		6	157563614	170805979	Human
407310290	GWAS959266_H	lipoprotein A measurement QTL GWAS959266 (human)		2e-285	lipoprotein A measurement		6	160157037	160157038	Human
407030751	GWAS679727_H	fatty acid measurement QTL GWAS679727 (human)		5e-10	fatty acid measurement		6	160122116	160122117	Human
407283673	GWAS932649_H	total cholesterol measurement QTL GWAS932649 (human)		6e-28	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	6	160136611	160136612	Human
407274982	GWAS923958_H	serum metabolite measurement QTL GWAS923958 (human)		7e-12	serum metabolite measurement		6	160136122	160136123	Human
407327206	GWAS976182_H	low density lipoprotein cholesterol measurement QTL GWAS976182 (human)		5e-17	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160122116	160122117	Human
407292903	GWAS941879_H	cation-independent mannose-6-phosphate receptor measurement QTL GWAS941879 (human)		3e-31	cation-independent mannose-6-phosphate receptor measurement		6	160147965	160147966	Human
407068641	GWAS717617_H	1-stearoyl-2-docosapentaenoyl-GPC (18:0/22:5n6) measurement QTL GWAS717617 (human)		0.0000004	1-stearoyl-2-docosapentaenoyl-GPC (18:0/22:5n6) measurement		6	160146896	160146897	Human
407389164	GWAS1038140_H	serum gamma-glutamyl transferase measurement QTL GWAS1038140 (human)		8e-15	serum gamma-glutamyl transferase measurement	serum gamma-glutamyltransferase activity level (CMO:0002241)	6	160143444	160143445	Human
407354862	GWAS1003838_H	lipoprotein A measurement QTL GWAS1003838 (human)		3e-15	lipoprotein A measurement		6	160143444	160143445	Human
407351277	GWAS1000253_H	carnitine measurement QTL GWAS1000253 (human)		2e-66	blood carnitine amount (VT:0003977)		6	160143444	160143445	Human
407063016	GWAS711992_H	nicotinamide riboside measurement QTL GWAS711992 (human)		3e-26	nicotinamide riboside measurement		6	160122116	160122117	Human
407292906	GWAS941882_H	cation-independent mannose-6-phosphate receptor measurement QTL GWAS941882 (human)		3e-14	cation-independent mannose-6-phosphate receptor measurement		6	160150024	160150025	Human
407292905	GWAS941881_H	cation-independent mannose-6-phosphate receptor measurement QTL GWAS941881 (human)		4e-16	cation-independent mannose-6-phosphate receptor measurement		6	160130848	160130849	Human
406929904	GWAS578880_H	apolipoprotein B measurement QTL GWAS578880 (human)		5e-54	apolipoprotein B measurement	blood apoliprotein B level (CMO:0000522)	6	160122116	160122117	Human
407379449	GWAS1028425_H	apolipoprotein B measurement QTL GWAS1028425 (human)		7e-55	apolipoprotein B measurement	blood apoliprotein B level (CMO:0000522)	6	160143444	160143445	Human
407035384	GWAS684360_H	very low density lipoprotein cholesterol measurement QTL GWAS684360 (human)		3e-15	total cholesterol measurement, very low density lipoprotein cholesterol measurement	blood total cholesterol level (CMO:0000051)	6	160122116	160122117	Human
407035385	GWAS684361_H	very low density lipoprotein cholesterol measurement QTL GWAS684361 (human)		4e-10	phospholipids in very small VLDL measurement	blood very low density lipoprotein cholesterol level (CMO:0000648)	6	160154334	160154335	Human
407331323	GWAS980299_H	very low density lipoprotein cholesterol measurement, phospholipid measurement QTL GWAS980299 (human)		4e-20	very low density lipoprotein cholesterol measurement, phospholipid measurement	blood very low density lipoprotein cholesterol level (CMO:0000648)	6	160122116	160122117	Human
407064451	GWAS713427_H	adipoylcarnitine (C6-DC) measurement QTL GWAS713427 (human)		3e-15	adipoylcarnitine (C6-DC) measurement		6	160130454	160130455	Human
407183236	GWAS832212_H	triglyceride measurement, very low density lipoprotein cholesterol measurement QTL GWAS832212 (human)		2e-08	triglyceride measurement, very low density lipoprotein cholesterol measurement	blood very low density lipoprotein cholesterol level (CMO:0000648)	6	160137589	160137591	Human
407380362	GWAS1029338_H	propionylcarnitine measurement QTL GWAS1029338 (human)		1e-19	propionylcarnitine measurement		6	160143444	160143445	Human
406900102	GWAS549078_H	lipid measurement QTL GWAS549078 (human)		1e-28	lipid measurement	blood lipid measurement (CMO:0000050)	6	160122116	160122117	Human
407062405	GWAS711381_H	X-11381 measurement QTL GWAS711381 (human)		1e-26	X-11381 measurement		6	160130454	160130455	Human
407077252	GWAS726228_H	3-methylglutarylcarnitine (2) measurement QTL GWAS726228 (human)		1e-59	3-methylglutarylcarnitine (2) measurement		6	160122116	160122117	Human
407216514	GWAS865490_H	low density lipoprotein cholesterol measurement QTL GWAS865490 (human)		6e-16	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160122116	160122117	Human
407327629	GWAS976605_H	pimeloylcarnitine/3-methyladipoylcarnitine (C7-DC) measurement QTL GWAS976605 (human)		1e-25	pimeloylcarnitine/3-methyladipoylcarnitine (C7-DC) measurement		6	160157828	160157829	Human
407396227	GWAS1045203_H	N-acetyl-isoputreanine measurement QTL GWAS1045203 (human)		2e-16	N-acetyl-isoputreanine measurement		6	160143444	160143445	Human
407317386	GWAS966362_H	X-11381 measurement QTL GWAS966362 (human)		6e-28	X-11381 measurement		6	160122116	160122117	Human
407347095	GWAS996071_H	bilirubin measurement QTL GWAS996071 (human)		8e-18	bilirubin measurement	serum total bilirubin level (CMO:0000376)	6	160143444	160143445	Human
407180180	GWAS829156_H	omega-6 polyunsaturated fatty acid measurement QTL GWAS829156 (human)		1e-08	omega-6 polyunsaturated fatty acid measurement		6	160143444	160143445	Human
406917523	GWAS566499_H	low density lipoprotein cholesterol measurement QTL GWAS566499 (human)		1e-10	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160157828	160157829	Human
407184278	GWAS833254_H	very low density lipoprotein cholesterol measurement, lipid measurement QTL GWAS833254 (human)		2e-09	very low density lipoprotein cholesterol measurement, lipid measurement	blood lipid measurement (CMO:0000050)	6	160138410	160138411	Human
406917522	GWAS566498_H	low density lipoprotein cholesterol measurement QTL GWAS566498 (human)		0.0000005	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160154953	160154954	Human
407351711	GWAS1000687_H	lipoprotein measurement, phospholipid measurement QTL GWAS1000687 (human)		2e-08	lipoprotein measurement, phospholipid measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160143444	160143445	Human
407276958	GWAS925934_H	total cholesterol measurement QTL GWAS925934 (human)		2e-31	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	6	160154170	160154171	Human
407320988	GWAS969964_H	glomerular filtration rate QTL GWAS969964 (human)		2e-18	glomerular filtration rate	glomerular filtration rate (CMO:0000490)	6	160154170	160154171	Human
406919584	GWAS568560_H	N-acetyl-isoputreanine measurement QTL GWAS568560 (human)		4e-12	N-acetyl-isoputreanine measurement		6	160151834	160151835	Human
407025057	GWAS674033_H	adipoylcarnitine (C6-DC) measurement QTL GWAS674033 (human)		9e-15	adipoylcarnitine (C6-DC) measurement		6	160139792	160139793	Human
407175586	GWAS824562_H	alkaline phosphatase measurement QTL GWAS824562 (human)		7e-16	alkaline phosphatase measurement	blood alkaline phosphatase activity level (CMO:0000576)	6	160122116	160122117	Human
407033771	GWAS682747_H	very low density lipoprotein cholesterol measurement QTL GWAS682747 (human)		1e-14	blood lipid amount (VT:0003949)	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160122116	160122117	Human
407090601	GWAS739577_H	metabolite measurement QTL GWAS739577 (human)		3e-10	metabolite measurement		6	160122116	160122117	Human
407242668	GWAS891644_H	free cholesterol measurement, intermediate density lipoprotein measurement QTL GWAS891644 (human)		1e-08	free cholesterol measurement, intermediate density lipoprotein measurement	blood intermediate density lipoprotein cholesterol level (CMO:0001562)	6	160122116	160122117	Human
407353768	GWAS1002744_H	IGF-1 measurement QTL GWAS1002744 (human)		5e-24	creatinine measurement	blood creatinine measurement (CMO:0000767)	6	160143444	160143445	Human
406930864	GWAS579840_H	sleep duration, low density lipoprotein cholesterol measurement QTL GWAS579840 (human)		2e-12	sleep duration, low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160157828	160157829	Human
407221175	GWAS870151_H	serum metabolite measurement QTL GWAS870151 (human)		8e-18	serum metabolite measurement		6	160130454	160130455	Human
406918578	GWAS567554_H	low density lipoprotein cholesterol measurement QTL GWAS567554 (human)		9e-14	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	6	160157037	160157038	Human
407030710	GWAS679686_H	intermediate density lipoprotein measurement QTL GWAS679686 (human)		3e-14	blood lipid amount (VT:0003949)	blood very low density lipoprotein cholesterol level (CMO:0000648)	6	160146896	160146897	Human
407038394	GWAS687370_H	total lipids in chylomicrons and extremely large VLDL measurement QTL GWAS687370 (human)		3e-10	total lipids in chylomicrons and extremely large VLDL measurement		6	160157037	160157038	Human
407130552	GWAS779528_H	triglyceride:HDL cholesterol ratio QTL GWAS779528 (human)		7e-08	triglyceride:HDL cholesterol ratio		6	160122116	160122117	Human
406923197	GWAS572173_H	apolipoprotein B measurement QTL GWAS572173 (human)		2e-13	apolipoprotein B measurement	blood apoliprotein B level (CMO:0000522)	6	160157037	160157038	Human

Markers in Region

SHGC-145283

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	160,572,909 - 160,573,185	UniSTS	GRCh37
Build 36	6	160,492,899 - 160,493,175	RGD	NCBI36
Celera	6	161,217,684 - 161,217,960	RGD
Cytogenetic Map	6	q25.3	UniSTS
HuRef	6	158,042,684 - 158,042,960	UniSTS
TNG Radiation Hybrid Map	6	79835.0	UniSTS

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_003057	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_153187	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005267102	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005267103	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005267104	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005267105	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006715552	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011536074	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054356250	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054356251	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AJ243995	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ243999	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ244000	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ276053	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK289887	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL353625	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL645733	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AV684761	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC126364	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471051	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068272	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U77086	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X98332	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000324965 ⟹ ENSP00000318103

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	160,121,936 - 160,158,551 (+)	Ensembl

Ensembl Acc Id:

ENST00000366963 ⟹ ENSP00000355930

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	160,121,815 - 160,158,718 (+)	Ensembl

Ensembl Acc Id:

ENST00000457470 ⟹ ENSP00000409557

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	160,121,936 - 160,158,582 (+)	Ensembl

Ensembl Acc Id:

ENST00000460902 ⟹ ENSP00000439274

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	160,121,936 - 160,158,716 (+)	Ensembl

Ensembl Acc Id:

ENST00000478607

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	160,155,954 - 160,158,718 (+)	Ensembl

Ensembl Acc Id:

ENST00000539263 ⟹ ENSP00000443245

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	160,121,899 - 160,158,582 (+)	Ensembl

Ensembl Acc Id:

ENST00000540443 ⟹ ENSP00000440105

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	160,129,761 - 160,134,007 (+)	Ensembl

RefSeq Acc Id:

NM_003057 ⟹ NP_003048

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	160,121,815 - 160,158,718 (+)	NCBI
GRCh37	6	160,542,821 - 160,580,147 (+)	NCBI
Build 36	6	160,462,853 - 160,499,740 (+)	NCBI Archive
HuRef	6	158,013,550 - 158,049,540 (+)	ENTREZGENE
CHM1_1	6	160,805,108 - 160,841,995 (+)	NCBI
T2T-CHM13v2.0	6	161,367,910 - 161,404,908 (+)	NCBI

Sequence:

show sequence

ACACTTGGACAGCAAACTGATTTCAAACCACTCCTTTTCAAAGATCTCTGAGGGAGACATTGCA
CCTGGCCACTGCAGCCCAGAGCAGGTCTGGCCACGGCCATGAGCATGCTGAGCCATCATGCCCA
CCGTGGATGACATTCTGGAGCAGGTTGGGGAGTCTGGCTGGTTCCAGAAGCAAGCCTTCCTCAT
CTTATGCCTGCTGTCGGCTGCCTTTGCGCCCATCTGTGTGGGCATCGTCTTCCTGGGTTTCACA
CCTGACCACCACTGCCAGAGTCCTGGGGTGGCTGAGCTGAGCCAGCGCTGTGGCTGGAGCCCTG
CGGAGGAGCTGAACTATACAGTGCCAGGCCTGGGGCCCGCGGGCGAGGCCTTCCTTGGCCAGTG
CAGGCGCTATGAAGTGGACTGGAACCAGAGCGCCCTCAGCTGTGTAGACCCCCTGGCTAGCCTG
GCCACCAACAGGAGCCACCTGCCGCTGGGTCCCTGCCAGGATGGCTGGGTGTATGACACGCCCG
GCTCTTCCATCGTCACTGAGTTCAACCTGGTGTGTGCTGACTCCTGGAAGCTGGACCTCTTTCA
GTCCTGTTTGAATGCGGGCTTCTTGTTTGGCTCTCTCGGTGTTGGCTACTTTGCAGACAGGTTT
GGCCGTAAGCTGTGTCTCCTGGGAACTGTGCTGGTCAACGCGGTGTCGGGCGTGCTCATGGCCT
TCTCGCCCAACTACATGTCCATGCTGCTCTTCCGCCTGCTGCAGGGCCTGGTCAGCAAGGGCAA
CTGGATGGCTGGCTACACCCTAATCACAGAATTTGTTGGCTCGGGCTCCAGAAGAACGGTGGCG
ATCATGTACCAGATGGCCTTCACGGTGGGGCTGGTGGCGCTTACCGGGCTGGCCTACGCCCTGC
CTCACTGGCGCTGGCTGCAGCTGGCAGTCTCCCTGCCCACCTTCCTCTTCCTGCTCTACTACTG
GTGTGTGCCGGAGTCCCCTCGGTGGCTGTTATCACAAAAAAGAAACACTGAAGCAATAAAGATA
ATGGACCACATCGCTCAAAAGAATGGGAAGTTGCCTCCTGCTGATTTAAAGATGCTTTCCCTCG
AAGAGGATGTCACCGAAAAGCTGAGCCCTTCATTTGCAGACCTGTTCCGCACGCCGCGCCTGAG
GAAGCGCACCTTCATCCTGATGTACCTGTGGTTCACGGACTCTGTGCTCTATCAGGGGCTCATC
CTGCACATGGGCGCCACCAGCGGGAACCTCTACCTGGATTTCCTTTACTCCGCTCTGGTCGAAA
TCCCGGGGGCCTTCATAGCCCTCATCACCATTGACCGCGTGGGCCGCATCTACCCCATGGCCAT
GTCAAATTTGTTGGCGGGGGCAGCCTGCCTCGTCATGATTTTTATCTCACCTGACCTGCACTGG
TTAAACATCATAATCATGTGTGTTGGCCGAATGGGAATCACCATTGCAATACAAATGATCTGCC
TGGTGAATGCTGAGCTGTACCCCACATTCGTCAGGAACCTCGGAGTGATGGTGTGTTCCTCCCT
GTGTGACATAGGTGGGATAATCACCCCCTTCATAGTCTTCAGGCTGAGGGAGGTCTGGCAAGCC
TTGCCCCTCATTTTGTTTGCGGTGTTGGGCCTGCTTGCCGCGGGAGTGACGCTACTTCTTCCAG
AGACCAAGGGGGTCGCTTTGCCAGAGACCATGAAGGACGCCGAGAACCTTGGGAGAAAAGCAAA
GCCCAAAGAAAACACGATTTACCTTAAGGTCCAAACCTCAGAACCCTCGGGCACCTGAGAGAGA
TGTTTTGCGGCGATGTCGTGTTGGAGGGATGAAGATGGAGTTATCCTCTGCAGAAATTCCTAGA
CGCCTTCACTTCTCTGTATTCTTCCTCATACTTGCCTACCCCCAAATTAATATCAGTCCTAAAG
AA

hide sequence

RefSeq Acc Id:

NM_153187 ⟹ NP_694857

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	160,121,815 - 160,158,718 (+)	NCBI
GRCh37	6	160,542,821 - 160,580,147 (+)	NCBI
Build 36	6	160,462,853 - 160,499,740 (+)	NCBI Archive
HuRef	6	158,013,550 - 158,049,540 (+)	ENTREZGENE
CHM1_1	6	160,805,108 - 160,841,995 (+)	NCBI
T2T-CHM13v2.0	6	161,367,910 - 161,404,908 (+)	NCBI

Sequence:

show sequence

ACACTTGGACAGCAAACTGATTTCAAACCACTCCTTTTCAAAGATCTCTGAGGGAGACATTGCA
CCTGGCCACTGCAGCCCAGAGCAGGTCTGGCCACGGCCATGAGCATGCTGAGCCATCATGCCCA
CCGTGGATGACATTCTGGAGCAGGTTGGGGAGTCTGGCTGGTTCCAGAAGCAAGCCTTCCTCAT
CTTATGCCTGCTGTCGGCTGCCTTTGCGCCCATCTGTGTGGGCATCGTCTTCCTGGGTTTCACA
CCTGACCACCACTGCCAGAGTCCTGGGGTGGCTGAGCTGAGCCAGCGCTGTGGCTGGAGCCCTG
CGGAGGAGCTGAACTATACAGTGCCAGGCCTGGGGCCCGCGGGCGAGGCCTTCCTTGGCCAGTG
CAGGCGCTATGAAGTGGACTGGAACCAGAGCGCCCTCAGCTGTGTAGACCCCCTGGCTAGCCTG
GCCACCAACAGGAGCCACCTGCCGCTGGGTCCCTGCCAGGATGGCTGGGTGTATGACACGCCCG
GCTCTTCCATCGTCACTGAGTTCAACCTGGTGTGTGCTGACTCCTGGAAGCTGGACCTCTTTCA
GTCCTGTTTGAATGCGGGCTTCTTGTTTGGCTCTCTCGGTGTTGGCTACTTTGCAGACAGGTTT
GGCCGTAAGCTGTGTCTCCTGGGAACTGTGCTGGTCAACGCGGTGTCGGGCGTGCTCATGGCCT
TCTCGCCCAACTACATGTCCATGCTGCTCTTCCGCCTGCTGCAGGGCCTGGTCAGCAAGGGCAA
CTGGATGGCTGGCTACACCCTAATCACAGAATTTGTTGGCTCGGGCTCCAGAAGAACGGTGGCG
ATCATGTACCAGATGGCCTTCACGGTGGGGCTGGTGGCGCTTACCGGGCTGGCCTACGCCCTGC
CTCACTGGCGCTGGCTGCAGCTGGCAGTCTCCCTGCCCACCTTCCTCTTCCTGCTCTACTACTG
GTGTGTGCCGGAGTCCCCTCGGTGGCTGTTATCACAAAAAAGAAACACTGAAGCAATAAAGATA
ATGGACCACATCGCTCAAAAGAATGGGAAGTTGCCTCCTGCTGATTTAAAGATGCTTTCCCTCG
AAGAGGATGTCACCGAAAAGCTGAGCCCTTCATTTGCAGACCTGTTCCGCACGCCGCGCCTGAG
GAAGCGCACCTTCATCCTGATGTACCTGTGGTTCACGGACTCTGTGCTCTATCAGGGGCTCATC
CTGCACATGGGCGCCACCAGCGGGAACCTCTACCTGGATTTCCTTTACTCCGCTCTGGTCGAAA
TCCCGGGGGCCTTCATAGCCCTCATCACCATTGACCGCGTGGGCCGCATCTACCCCATGGCCAT
GTCAAATTTGTTGGCGGGGGCAGCCTGCCTCGTCATGATTTTTATCTCACCTGACCTGCACTGG
TTAAACATCATAATCATGTGTGTTGGCCGAATGGGAATCACCATTGCAATACAAATGATCTGCC
TGGTGAATGCTGAGCTGTACCCCACATTCGTCAGCGGTGTTGGGCCTGCTTGCCGCGGGAGTGA
CGCTACTTCTTCCAGAGACCAAGGGGGTCGCTTTGCCAGAGACCATGAAGGACGCCGAGAACCT
TGGGAGAAAAGCAAAGCCCAAAGAAAACACGATTTACCTTAAGGTCCAAACCTCAGAACCCTCG
GGCACCTGAGAGAGATGTTTTGCGGCGATGTCGTGTTGGAGGGATGAAGATGGAGTTATCCTCT
GCAGAAATTCCTAGACGCCTTCACTTCTCTGTATTCTTCCTCATACTTGCCTACCCCCAAATTA
ATATCAGTCCTAAAGAA

hide sequence

RefSeq Acc Id:

XM_005267103 ⟹ XP_005267160

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	160,121,815 - 160,158,718 (+)	NCBI
GRCh37	6	160,542,821 - 160,580,147 (+)	NCBI

Sequence:

show sequence

ATGTTTCACACTTGGACAGCAAACTGATTTCAAACCACTCCTTTTCAAAGATCTCTGAGGGAGA
CATTGCACCTGGCCACTGCAGCCCAGAGCAGGTCTGGCCACGGCCATGAGCATGCTGAGCCATC
ATGCCCACCGTGGATGACATTCTGGAGCAGGTTGGGGAGTCTGGCTGGTTCCAGAAGCAAGCCT
TCCTCATCTTATGCCTGCTGTCGGCTGCCTTTGCGCCCATCTGTGTGGGCATCGTCTTCCTGGG
TTTCACACCTGACCACCACTGCCAGAGTCCTGGGGTGGCTGAGCTGAGCCAGCGCTGTGGCTGG
AGCCCTGCGGAGGAGCTGAACTATACAGTGCCAGGCCTGGGGCCCGCGGGCGAGGCCTTCCTTG
GCCAGTGCAGGCGCTATGAAGTGGACTGGAACCAGAGCGCCCTCAGCTGTGTAGACCCCCTGGC
TAGCCTGGCCACCAACAGGAGCCACCTGCCGCTGGGTCCCTGCCAGGATGGCTGGGTGTATGAC
ACGCCCGGCTCTTCCATCGTCACTGAGTTCAACCTGGTGTGTGCTGACTCCTGGAAGCTGGACC
TCTTTCAGTCCTGTTTGAATGCGGGCTTCTTGTTTGGCTCTCTCGGTGTTGGCTACTTTGCAGA
CAGGTTTGGCCGTAAGCTGTGTCTCCTGGGAACTGTGCTGGTCAACGCGGTGTCGGGCGTGCTC
ATGGCCTTCTCGCCCAACTACATGTCCATGCTGCTCTTCCGCCTGCTGCAGGGCCTGGTCAGCA
AGGGCAACTGGATGGCTGGCTACACCCTAATCACAGAATTTGTTGGCTCGGGCTCCAGAAGAAC
GGTGGCGATCATGTACCAGATGGCCTTCACGGTGGGGCTGGTGGCGCTTACCGGGCTGGCCTAC
GCCCTGCCTCACTGGCGCTGGCTGCAGCTGGCAGTCTCCCTGCCCACCTTCCTCTTCCTGCTCT
ACTACTGGTGTGTGCCGGAGTCCCCTCGGTGGCTGTTATCACAAAAAAGAAACACTGAAGCAAT
AAAGATAATGGACCACATCGCTCAAAAGAATGGGAAGTTGCCTCCTGCTGATTTAAAGATGCTT
TCCCTCGAAGAGGATGTCACCGAAAAGCTGAGCCCTTCATTTGCAGACCTGTTCCGCACGCCGC
GCCTGAGGAAGCGCACCTTCATCCTGATGTACCTGTGGTTCACGGACTCTGTGCTCTATCAGGG
GCTCATCCTGCACATGGGCGCCACCAGCGGGAACCTCTACCTGGATTTCCTTTACTCCGCTCTG
GTCGAAATCCCGGGGGCCTTCATAGCCCTCATCACCATTGACCGCGTGGGCCGCATCTACCCCA
TGGCCATGTCAAATTTGTTGGCGGGGGCAGCCTGCCTCGTCATGATTTTTATCTCACCTGACCT
GCACTGGTTAAACATCATAATCATGTGTGTTGGCCGAATGGGAATCACCATTGCAATACAAATG
ATCTGCCTGGTGAATGCTGAGCTGTACCCCACATTCGTCAGGAACCTCGGAGTGATGGTGTGTT
CCTCCCTGTGTGACATAGGTGGGATAATCACCCCCTTCATAGTCTTCAGGCTGAGGGAGGTCTG
GCAAGCCTTGCCCCTCATTTTGTTTGGCCAGAGAACTTCCAAGACCCTGCTTACCCACTTGATA
GAAGACAACAGTTGCTGGTTGTTTGCAGAGCCAGCCATGCCTGGGCACAGCGGTGTTGGGCCTG
CTTGCCGCGGGAGTGACGCTACTTCTTCCAGAGACCAAGGGGGTCGCTTTGCCAGAGACCATGA
AGGACGCCGAGAACCTTGGGAGAAAAGCAAAGCCCAAAGAAAACACGATTTACCTTAAGGTCCA
AACCTCAGAACCCTCGGGCACCTGAGAGAGATGTTTTGCGGCGATGTCGTGTTGGAGGGATGAA
GATGGAGTTATCCTCTGCAGAAATTCCTAGACGCCTTCACTTCTCTGTATTCTTCCTCATACTT
GCCTACCCCCAAATTAATATCAGTCCTAAAGAA

hide sequence

RefSeq Acc Id:

XM_006715552 ⟹ XP_006715615

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	160,121,815 - 160,158,718 (+)	NCBI

Sequence:

show sequence

ATGTTTCACACTTGGACAGCAAACTGATTTCAAACCACTCCTTTTCAAAGATCTCTGAGGGAGA
CATTGCACCTGGCCACTGCAGCCCAGAGCAGGTCTGGCCACGGCCATGAGCATGCTGAGCCATC
ATGCCCACCGTGGATGACATTCTGGAGCAGGTTGGGGAGTCTGGCTGGTTCCAGAAGCAAGCCT
TCCTCATCTTATGCCTGCTGTCGGCTGCCTTTGCGCCCATCTGTGTGGGCATCGTCTTCCTGGG
TTTCACACCTGACCACCACTGCCAGAGTCCTGGGGTGGCTGAGCTGAGCCAGCGCTGTGGCTGG
AGCCCTGCGGAGGAGCTGAACTATACAGTGCCAGGCCTGGGGCCCGCGGGCGAGGCCTTCCTTG
GCCAGTGCAGGCGCTATGAAGTGGACTGGAACCAGAGCGCCCTCAGCTGTGTAGACCCCCTGGC
TAGCCTGGCCACCAACAGGAGCCACCTGCCGCTGGGTCCCTGCCAGGATGGCTGGGTGTATGAC
ACGCCCGGCTCTTCCATCGTCACTGAGTTCAACCTGGTGTGTGCTGACTCCTGGAAGCTGGACC
TCTTTCAGTCCTGTTTGAATGCGGGCTTCTTGTTTGGCTCTCTCGGTGTTGGCTACTTTGCAGA
CAGGTTTGGCCGTAAGCTGTGTCTCCTGGGAACTGTGCTGGTCAACGCGGTGTCGGGCGTGCTC
ATGGCCTTCTCGCCCAACTACATGTCCATGCTGCTCTTCCGCCTGCTGCAGGGCCTGGTCAGCA
AGGGCAACTGGATGGCTGGCTACACCCTAATCACAGAATTTGTTGGCTCGGGCTCCAGAAGAAC
GGTGGCGATCATGTACCAGATGGCCTTCACGGTGGGGCTGGTGGCGCTTACCGGGCTGGCCTAC
GCCCTGCCTCACTGGCGCTGGCTGCAGCTGGCAGTCTCCCTGCCCACCTTCCTCTTCCTGCTCT
ACTACTGGTGTGTGCCGGAGTCCCCTCGGTGGCTGTTATCACAAAAAAGAAACACTGAAGCAAT
AAAGATAATGGACCACATCGCTCAAAAGAATGGGAAGTTGCCTCCTGCTGATTTAAAGATGCTT
TCCCTCGAAGAGGATGTCACCGAAAAGCTGAGCCCTTCATTTGCAGACCTGTTCCGCACGCCGC
GCCTGAGGAAGCGCACCTTCATCCTGATGTACCTGTGGTTCACGGACTCTGTGCTCTATCAGGG
GCTCATCCTGCACATGGGCGCCACCAGCGGGAACCTCTACCTGGATTTCCTTTACTCCGCTCTG
GTCGAAATCCCGGGGGCCTTCATAGCCCTCATCACCATTGACCGCGTGGGCCGCATCTACCCCA
TGGCCATGTCAAATTTGTTGGCGGGGGCAGCCTGCCTCGTCATGATTTTTATCTCACCTGACCT
GCACTGGTTAAACATCATAATCATGTGTGTTGGCCGAATGGGAATCACCATTGCAATACAAATG
ATCTGCCTGGTGAATGCTGAGCTGTACCCCACATTCGTCAGAAAAGCAAAGCCCAAAGAAAACA
CGATTTACCTTAAGGTCCAAACCTCAGAACCCTCGGGCACCTGAGAGAGATGTTTTGCGGCGAT
GTCGTGTTGGAGGGATGAAGATGGAGTTATCCTCTGCAGAAATTCCTAGACGCCTTCACTTCTC
TGTATTCTTCCTCATACTTGCCTACCCCCAAATTAATATCAGTCCTAAAGAA

hide sequence

RefSeq Acc Id:

XM_054356250 ⟹ XP_054212225

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	6	161,367,910 - 161,404,908 (+)	NCBI

RefSeq Acc Id:

XM_054356251 ⟹ XP_054212226

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	6	161,367,910 - 161,404,908 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_003048	(Get FASTA)	NCBI Sequence Viewer
	NP_694857	(Get FASTA)	NCBI Sequence Viewer
	XP_005267160	(Get FASTA)	NCBI Sequence Viewer
	XP_006715615	(Get FASTA)	NCBI Sequence Viewer
	XP_054212225	(Get FASTA)	NCBI Sequence Viewer
	XP_054212226	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB67703	(Get FASTA)	NCBI Sequence Viewer
	AAI26365	(Get FASTA)	NCBI Sequence Viewer
	BAF82576	(Get FASTA)	NCBI Sequence Viewer
	CAA66977	(Get FASTA)	NCBI Sequence Viewer
	CAB95971	(Get FASTA)	NCBI Sequence Viewer
	EAW47603	(Get FASTA)	NCBI Sequence Viewer
	EAW47604	(Get FASTA)	NCBI Sequence Viewer
	EAW47605	(Get FASTA)	NCBI Sequence Viewer
	EAW47606	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000318103
	ENSP00000318103.4
	ENSP00000355930
	ENSP00000355930.4
	ENSP00000409557
	ENSP00000409557.2
	ENSP00000439274.1
	ENSP00000440105.1
	ENSP00000443245.1
GenBank Protein	O15245	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_003048 ⟸ NM_003057
- Peptide Label:	isoform a
- UniProtKB:	O15395 (UniProtKB/Swiss-Prot), C9JSU6 (UniProtKB/Swiss-Prot), A8K1H2 (UniProtKB/Swiss-Prot), A6NFF3 (UniProtKB/Swiss-Prot), Q9NQD4 (UniProtKB/Swiss-Prot), O15245 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MPTVDDILEQVGESGWFQKQAFLILCLLSAAFAPICVGIVFLGFTPDHHCQSPGVAELSQRCGW SPAEELNYTVPGLGPAGEAFLGQCRRYEVDWNQSALSCVDPLASLATNRSHLPLGPCQDGWVYD TPGSSIVTEFNLVCADSWKLDLFQSCLNAGFLFGSLGVGYFADRFGRKLCLLGTVLVNAVSGVL MAFSPNYMSMLLFRLLQGLVSKGNWMAGYTLITEFVGSGSRRTVAIMYQMAFTVGLVALTGLAY ALPHWRWLQLAVSLPTFLFLLYYWCVPESPRWLLSQKRNTEAIKIMDHIAQKNGKLPPADLKML SLEEDVTEKLSPSFADLFRTPRLRKRTFILMYLWFTDSVLYQGLILHMGATSGNLYLDFLYSAL VEIPGAFIALITIDRVGRIYPMAMSNLLAGAACLVMIFISPDLHWLNIIIMCVGRMGITIAIQM ICLVNAELYPTFVRNLGVMVCSSLCDIGGIITPFIVFRLREVWQALPLILFAVLGLLAAGVTLL LPETKGVALPETMKDAENLGRKAKPKENTIYLKVQTSEPSGT hide sequence

RefSeq Acc Id:	NP_694857 ⟸ NM_153187
- Peptide Label:	isoform b
- UniProtKB:	O15245 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MPTVDDILEQVGESGWFQKQAFLILCLLSAAFAPICVGIVFLGFTPDHHCQSPGVAELSQRCGW SPAEELNYTVPGLGPAGEAFLGQCRRYEVDWNQSALSCVDPLASLATNRSHLPLGPCQDGWVYD TPGSSIVTEFNLVCADSWKLDLFQSCLNAGFLFGSLGVGYFADRFGRKLCLLGTVLVNAVSGVL MAFSPNYMSMLLFRLLQGLVSKGNWMAGYTLITEFVGSGSRRTVAIMYQMAFTVGLVALTGLAY ALPHWRWLQLAVSLPTFLFLLYYWCVPESPRWLLSQKRNTEAIKIMDHIAQKNGKLPPADLKML SLEEDVTEKLSPSFADLFRTPRLRKRTFILMYLWFTDSVLYQGLILHMGATSGNLYLDFLYSAL VEIPGAFIALITIDRVGRIYPMAMSNLLAGAACLVMIFISPDLHWLNIIIMCVGRMGITIAIQM ICLVNAELYPTFVSGVGPACRGSDATSSRDQGGRFARDHEGRREPWEKSKAQRKHDLP hide sequence

RefSeq Acc Id:

XP_005267160 ⟸ XM_005267103

- Peptide Label:

isoform X1

- Sequence:

show sequence

MPTVDDILEQVGESGWFQKQAFLILCLLSAAFAPICVGIVFLGFTPDHHCQSPGVAELSQRCGW
SPAEELNYTVPGLGPAGEAFLGQCRRYEVDWNQSALSCVDPLASLATNRSHLPLGPCQDGWVYD
TPGSSIVTEFNLVCADSWKLDLFQSCLNAGFLFGSLGVGYFADRFGRKLCLLGTVLVNAVSGVL
MAFSPNYMSMLLFRLLQGLVSKGNWMAGYTLITEFVGSGSRRTVAIMYQMAFTVGLVALTGLAY
ALPHWRWLQLAVSLPTFLFLLYYWCVPESPRWLLSQKRNTEAIKIMDHIAQKNGKLPPADLKML
SLEEDVTEKLSPSFADLFRTPRLRKRTFILMYLWFTDSVLYQGLILHMGATSGNLYLDFLYSAL
VEIPGAFIALITIDRVGRIYPMAMSNLLAGAACLVMIFISPDLHWLNIIIMCVGRMGITIAIQM
ICLVNAELYPTFVRNLGVMVCSSLCDIGGIITPFIVFRLREVWQALPLILFGQRTSKTLLTHLI
EDNSCWLFAEPAMPGHSGVGPACRGSDATSSRDQGGRFARDHEGRREPWEKSKAQRKHDLP

hide sequence

RefSeq Acc Id:	XP_006715615 ⟸ XM_006715552
- Peptide Label:	isoform X2
- UniProtKB:	O15245 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MPTVDDILEQVGESGWFQKQAFLILCLLSAAFAPICVGIVFLGFTPDHHCQSPGVAELSQRCGW SPAEELNYTVPGLGPAGEAFLGQCRRYEVDWNQSALSCVDPLASLATNRSHLPLGPCQDGWVYD TPGSSIVTEFNLVCADSWKLDLFQSCLNAGFLFGSLGVGYFADRFGRKLCLLGTVLVNAVSGVL MAFSPNYMSMLLFRLLQGLVSKGNWMAGYTLITEFVGSGSRRTVAIMYQMAFTVGLVALTGLAY ALPHWRWLQLAVSLPTFLFLLYYWCVPESPRWLLSQKRNTEAIKIMDHIAQKNGKLPPADLKML SLEEDVTEKLSPSFADLFRTPRLRKRTFILMYLWFTDSVLYQGLILHMGATSGNLYLDFLYSAL VEIPGAFIALITIDRVGRIYPMAMSNLLAGAACLVMIFISPDLHWLNIIIMCVGRMGITIAIQM ICLVNAELYPTFVRKAKPKENTIYLKVQTSEPSGT hide sequence

Ensembl Acc Id:

ENSP00000318103 ⟸ ENST00000324965

Ensembl Acc Id:

ENSP00000409557 ⟸ ENST00000457470

Ensembl Acc Id:

ENSP00000355930 ⟸ ENST00000366963

Ensembl Acc Id:

ENSP00000443245 ⟸ ENST00000539263

Ensembl Acc Id:

ENSP00000439274 ⟸ ENST00000460902

Ensembl Acc Id:

ENSP00000440105 ⟸ ENST00000540443

RefSeq Acc Id:	XP_054212225 ⟸ XM_054356250
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_054212226 ⟸ XM_054356251
- Peptide Label:	isoform X4

Protein Domains

Major facilitator superfamily (MFS) profile

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O15245-F1-model_v2	AlphaFold	O15245	1-554	view protein structure

Promoters

RGD ID:

7209601

Promoter ID:

EPDNEW_H10547

Type:

initiation region

Name:

SLC22A1_2

Description:

solute carrier family 22 member 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H10548

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	160,121,674 - 160,121,734	EPDNEW

RGD ID:

7209607

Promoter ID:

EPDNEW_H10548

Type:

initiation region

Name:

SLC22A1_1

Description:

solute carrier family 22 member 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H10547

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	160,121,886 - 160,121,946	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:10963	AgrOrtholog
COSMIC	SLC22A1	COSMIC
Ensembl Genes	ENSG00000175003	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000324965	ENTREZGENE
	ENST00000324965.8	UniProtKB/Swiss-Prot
	ENST00000366963	ENTREZGENE
	ENST00000366963.9	UniProtKB/Swiss-Prot
	ENST00000457470	ENTREZGENE
	ENST00000457470.6	UniProtKB/Swiss-Prot
	ENST00000460902.2	UniProtKB/Swiss-Prot
	ENST00000539263.5	UniProtKB/TrEMBL
	ENST00000540443.1	UniProtKB/TrEMBL
Gene3D-CATH	1.20.1250.20	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000175003	GTEx
HGNC ID	HGNC:10963	ENTREZGENE
Human Proteome Map	SLC22A1	Human Proteome Map
InterPro	MFS_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	MFS_sugar_transport-like	UniProtKB/Swiss-Prot
	MFS_trans_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Orgcat_transp/SVOP	UniProtKB/Swiss-Prot
	Sugar_transporter_CS	UniProtKB/Swiss-Prot
KEGG Report	hsa:6580	UniProtKB/Swiss-Prot
NCBI Gene	6580	ENTREZGENE
OMIM	602607	OMIM
PANTHER	SOLUTE CARRIER FAMILY 22 MEMBER	UniProtKB/Swiss-Prot
	SOLUTE CARRIER FAMILY 22 MEMBER 1	UniProtKB/Swiss-Prot
Pfam	Sugar_tr	UniProtKB/Swiss-Prot
PharmGKB	PA329	PharmGKB, RGD
PROSITE	MFS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SUGAR_TRANSPORT_1	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF103473	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A6NFF3	ENTREZGENE
	A8K1H2	ENTREZGENE
	C9JSU6	ENTREZGENE
	F5GY86_HUMAN	UniProtKB/TrEMBL
	F5H5P3_HUMAN	UniProtKB/TrEMBL
	O15245	ENTREZGENE
	O15395	ENTREZGENE
	Q9NQD4	ENTREZGENE
	S22A1_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	A6NFF3	UniProtKB/Swiss-Prot
	A8K1H2	UniProtKB/Swiss-Prot
	C9JSU6	UniProtKB/Swiss-Prot
	O15395	UniProtKB/Swiss-Prot
	Q9NQD4	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-02-23	SLC22A1	solute carrier family 22 member 1	SLC22A1	solute carrier family 22 (organic cation transporter), member 1	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

RGD Manual Annotations

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

RGD Manual Annotations

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - ClinVar