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Gene: CYP2C19 (cytochrome P450 family 2 subfamily C member 19) Homo sapiens

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Symbol:

CYP2C19

Name:

cytochrome P450 family 2 subfamily C member 19

RGD ID:

737416

HGNC Page

HGNC:2621

Description:

Enables enzyme binding activity; heme binding activity; and monooxygenase activity. Involved in several processes, including long-chain fatty acid metabolic process; monoterpenoid metabolic process; and xenobiotic catabolic process. Located in plasma membrane. Implicated in several diseases, including Plasmodium falciparum malaria; carcinoma (multiple); eosinophilic esophagitis; heroin dependence; and invasive aspergillosis. Biomarker of Keshan disease and dilated cardiomyopathy.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

(R)-limonene 6-monooxygenase; (S)-limonene 6-monooxygenase; (S)-limonene 7-monooxygenase; CPCJ; CYP2C; CYPIIC17; CYPIIC19; cytochrome P-450 II C; cytochrome P450 2C19; cytochrome P450, family 2, subfamily C, polypeptide 19; cytochrome p450, subfamily iic (mephenytoin 4-hydroxylase); cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19; cytochrome P450-11A; cytochrome P450-254C; fenbendazole monooxygenase (4'-hydroxylating); flavoprotein-linked monooxygenase; mephenytoin 4'-hydroxylase; mephenytoin 4-hydroxylase; microsomal monooxygenase; P450C2C; P450IIC19; S-mephenytoin 4-hydroxylase; xenobiotic monooxygenase

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

CYP2C63P CYP2C64P

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	10	94,762,681 - 94,855,547 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	10	94,762,662 - 94,856,282 (+)	Ensembl			hg38	GRCh38
GRCh37	10	96,522,438 - 96,615,304 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	10	96,512,453 - 96,602,661 (+)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	10	96,512,452 - 96,602,661	NCBI
Celera	10	90,262,555 - 90,352,777 (+)	NCBI		Celera
Cytogenetic Map	10	q23.33	NCBI
HuRef	10	90,149,122 - 90,239,340 (+)	NCBI		HuRef
CHM1_1	10	96,804,212 - 96,894,435 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	10	95,641,807 - 95,734,675 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Acute Coronary Syndrome (IAGP)

acute kidney failure (EXP)

alcohol withdrawal syndrome (IAGP)

Allergic Rhinoconjunctivitis (IAGP)

atrial fibrillation (EXP)

autism spectrum disorder (EXP)

breast cancer (IAGP)

cardiovascular system disease (EXP)

Chemical and Drug Induced Liver Injury (EXP)

dilated cardiomyopathy (IEP)

Drug Eruptions (IAGP)

Dyslipidemias (IAGP)

end stage renal disease (EXP)

eosinophilic esophagitis (IAGP)

Gastrointestinal Hemorrhage (IAGP)

Genetic Predisposition to Disease (EXP)

head and neck squamous cell carcinoma (IAGP)

Helicobacter Infections (IAGP)

Hematologic Neoplasms (IAGP)

hepatocellular carcinoma (IAGP)

heroin dependence (IAGP)

invasive aspergillosis (IAGP)

Invasive Fungal Infections (IAGP)

Keshan disease (IEP)

multiple chemical sensitivity (IAGP)

multiple myeloma (IAGP)

peptic ulcer disease (IAGP)

Plasmodium falciparum malaria (IAGP)

Poor Drug Metabolism, CYP2C19-Related (EXP,IAGP)

Poor Metabolism of Proguanil (IAGP)

primary ovarian insufficiency (EXP)

Prostatic Neoplasms (EXP)

sickle cell anemia (IAGP)

thrombosis (EXP)

tuberculosis (IAGP)

type 2 diabetes mellitus (ISO)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-artemisinin (EXP)

(+)-schisandrin B (ISO)

(3-phenoxyphenyl)methanol (EXP)

(E)-thiamethoxam (EXP)

(E,E)-germacrone (EXP)

(R)-lipoic acid (EXP)

(S)-naringenin (EXP)

1,1,1-Trichloro-2-(4-hydroxyphenyl)-2-(4-methoxyphenyl)ethane (EXP)

1,2,4-trichloro-5-(2,5-dichlorophenyl)benzene (ISO)

1,2-dichloroethane (ISO)

1,2-dichloroethene (ISO)

1,4-naphthoquinone (EXP)

1-(1,3-benzodioxol-5-yl)-4,4-dimethyl-1-penten-3-ol (EXP)

1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile (EXP)

1-naphthol (EXP)

17alpha-ethynylestradiol (EXP,ISO)

17beta-estradiol (EXP,ISO)

1H-pyrazole (ISO)

2,2',4,4',5,5'-hexachlorobiphenyl (ISO)

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

2,2',5,5'-tetrachlorobiphenyl (ISO)

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

2,4,4'-trichlorobiphenyl (ISO)

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

2,6-di-tert-butyl-4-methylphenol (ISO)

2-[cyclohexyl(oxo)methyl]-3,6,7,11b-tetrahydro-1H-pyrazino[2,1-a]isoquinolin-4-one (EXP)

2-nitroanisole (EXP,ISO)

2-tert-butylhydroquinone (EXP)

3,3',4,4',5-pentachlorobiphenyl (EXP,ISO)

3,5,6-trichloro-2-pyridinol (EXP)

3,5,6-trichloropyridine-2-one (EXP)

3,5-xylenol (EXP)

4,4'-sulfonyldiphenol (ISO)

4-(methylsulfinyl)phenol (EXP)

4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one (EXP)

4-[(1E)-1,2-diphenylbut-1-en-1-yl]phenol (EXP)

4-bromo-2-chlorophenol (EXP)

4-hydroxychalcone (ISO)

4-hydroxycyclophosphamide (EXP)

4-hydroxytolbutamide (EXP)

4-Ipomeanol (EXP)

4-nitrophenol (EXP)

4-tert-Octylphenol (EXP)

5-hydroxydiclofenac (EXP)

5-Hydroxythalidomide (EXP)

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

5-methoxy-N,N-diisopropyltryptamine (EXP)

5-methyltryptamine (EXP)

6-(4-chlorophenyl)imidazo[2,1-b][1,3]thiazole-5-carbaldehyde O-(3,4-dichlorobenzyl)oxime (EXP)

6-propyl-2-thiouracil (ISO)

7,12-dimethyltetraphene (EXP)

7-hydroxyflavone (EXP)

AB-Fubinaca (EXP)

acenocoumarol (EXP)

acetamide (ISO)

Acetyl tributyl citrate (ISO)

aconitine (EXP)

acrolein (EXP)

adinazolam (EXP)

ADP (EXP)

afimoxifene (EXP)

aflatoxin B1 (EXP)

aldehydo-D-glucose (ISO)

all-trans-retinoic acid (EXP,ISO)

almotriptan (EXP)

Aloe emodin (EXP)

alpha-hexachlorocyclohexane (ISO)

alpha-linolenic acid (EXP)

alpha-methyltryptamine (EXP)

amiodarone (EXP)

amitriptyline (EXP)

amitriptylinoxide (EXP)

amitrole (ISO)

ammonium chloride (ISO)

amodiaquine (EXP)

amphetamine (EXP)

amphotericin B (EXP)

arachidonic acid (EXP)

aristolochic acid A (ISO)

Aroclor 1254 (EXP,ISO)

arsane (EXP)

arsenic atom (EXP)

arsenite(3-) (ISO)

arsenous acid (ISO)

asiaticoside (EXP)

atazanavir sulfate (EXP)

atrazine (EXP)

Auriculasin (EXP)

Avasimibe (EXP)

Azoxymethane (ISO)

azoxystrobin (EXP)

baicalein (EXP)

barnidipine (EXP)

benfuracarb (EXP)

benidipine (EXP)

benzbromarone (EXP)

benzo[a]pyrene (EXP,ISO)

benzylideneacetone (ISO)

beta-hexachlorocyclohexane (ISO)

beta-naphthoflavone (EXP,ISO)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (EXP,ISO)

bisphenol AF (EXP)

bisphenol F (EXP)

bortezomib (EXP)

brequinar (EXP)

bromfenac (EXP)

bromuconazole (ISO)

Bufuralol (EXP,ISO)

bupropion (EXP)

cadmium atom (ISO)

cadmium dichloride (ISO)

calcitriol (EXP)

cannabidiol (EXP)

capsaicin (EXP)

captan (EXP,ISO)

carbamazepine (EXP)

carbendazim (EXP)

carbofuran (EXP)

carisoprodol (EXP)

Carnosol (EXP)

CGP 52608 (EXP)

chalcone (ISO)

chelidonine (EXP)

chenodeoxycholic acid (EXP)

chloramphenicol (EXP)

chlorohydrocarbon (ISO)

chlorotoluron (EXP)

chlorpromazine (EXP)

chlorpyrifos (EXP)

chlorzoxazone (ISO)

choline (ISO)

chrysosplenetin (EXP)

citalopram (EXP)

Citreorosein (EXP)

clopidogrel (EXP)

clotrimazole (ISO)

clozapine (EXP)

Clozapine N-oxide (EXP)

copper(II) chloride (ISO)

cumene hydroperoxide (EXP)

cyclophosphamide (EXP,ISO)

cyclosporin A (EXP)

cypermethrin (EXP)

cyproconazole (EXP,ISO)

cyprodinil (EXP)

D-glucose (ISO)

dabrafenib (EXP)

dapsone (EXP)

decabromodiphenyl ether (ISO)

dehydroepiandrosterone sulfate (EXP,ISO)

delavirdine (EXP)

deoxycholic acid (EXP,ISO)

desipramine (EXP)

dexamethasone (ISO)

dextran sulfate (ISO)

dextromethorphan (EXP)

diarsenic trioxide (ISO)

diarylheptanoid (EXP)

diazepam (EXP,ISO)

diazinon (EXP)

dibenzo[a,l]pyrene (EXP)

dichloroacetic acid (ISO)

diclofenac (EXP,ISO)

diethylcarbamazine (EXP)

diethyldithiocarbamic acid (EXP)

difenoconazole (EXP)

dihydroartemisinin (EXP)

dihydrocapsaicin (EXP)

dimemorfan (EXP)

dimethomorph (EXP)

dimethyl sulfoxide (EXP,ISO)

diniconazole (EXP)

diosmetin (EXP)

dronedarone (EXP)

efavirenz (EXP)

Elemicin (EXP)

ellipticine (EXP)

emodin (EXP)

endosulfan (ISO)

enfuvirtide (EXP)

enilconazole (EXP)

epoxiconazole (EXP,ISO)

ethambutol (EXP)

ethanol (ISO)

ethofumesate (EXP)

ethoprophos (EXP)

eupatorin (EXP)

famotidine (EXP)

fenhexamid (EXP)

fenofibrate (EXP)

fenpyroximate (EXP)

fenvalerate (EXP)

fipronil (EXP)

fluconazole (EXP)

fludioxonil (EXP)

flunitrazepam (EXP)

fluorescein (lactone form) (EXP)

fluoxetine (EXP,ISO)

fluphenazine (EXP)

flusilazole (EXP)

flutamide (EXP)

flutriafol (EXP)

fluxapyroxad (EXP)

folic acid (ISO)

fructose (ISO)

Furafylline (EXP,ISO)

furan (ISO)

genistein (EXP,ISO)

gingerol (EXP)

glucose (ISO)

glutathione (EXP)

glycochenodeoxycholic acid (EXP)

glycocholic acid (EXP)

glycodeoxycholic acid (EXP)

glyoxal (EXP)

herbicide (EXP)

heroin (ISO)

hesperetin (EXP)

hexobarbital (EXP)

Hydroxymephenytoin (EXP)

Hypaconitine (EXP)

Icaritin (EXP)

ifosfamide (EXP)

imipramine (EXP)

imipramine oxide (EXP)

imiquimod (EXP)

indole-3-methanol (ISO)

iprodione (EXP)

isocarbophos (EXP)

isoliquiritigenin (EXP)

ketoconazole (EXP,ISO)

L-methionine (ISO)

lamotrigine (ISO)

lansoprazole (EXP,ISO)

lefetamine (EXP)

Licochalcone A (EXP)

linoleic acid (EXP)

lipoic acid (EXP)

liquiritigenin (EXP)

lithocholic acid (ISO)

luteolin (EXP)

madecassoside (EXP)

maneb (EXP)

mangiferin (ISO)

Marrubiin (EXP)

mefenamic acid (EXP)

Melarsoprol (EXP)

melatonin (EXP)

mephenytoin (EXP)

mephobarbital (EXP)

Meprobamate (EXP)

mercury dichloride (ISO)

metalaxyl (EXP)

methimazole (ISO)

methiocarb (EXP)

methiocarb-sulfoxide (EXP)

methoxsalen (ISO)

methoxychlor (EXP)

methylmercury chloride (ISO)

Methysticin (ISO)

metolachlor (EXP)

miconazole (EXP)

Miltirone (EXP)

Mitragynine (EXP)

moclobemide (EXP)

Moniliformin (ISO)

mono(2-ethyl-5-hydroxyhexyl) phthalate (EXP,ISO)

mono(2-ethyl-5-oxohexyl) phthalate (EXP,ISO)

mono(2-ethylhexyl) phthalate (EXP,ISO)

monocrotaline (EXP)

morphine (ISO)

myricetin (EXP)

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

N,N-diisopropyltryptamine (EXP)

N,N-dimethyltryptamine (EXP)

N-acetyl-L-cysteine (EXP)

N-desmethylclozapine (EXP)

N-hydroxy-PhIP (EXP)

N-nitrosodiethylamine (ISO)

NADP zwitterion (EXP)

NADP(+) (EXP)

naphthalene (EXP)

nefazodone (EXP)

nicardipine (EXP)

nimesulide (EXP)

norflurazon (EXP)

norgestimate (EXP)

Notopterol (EXP)

O-methyleugenol (EXP)

o-toluidine (ISO)

okadaic acid (EXP)

okanin (EXP)

omacetaxine mepesuccinate (EXP)

omeprazole (EXP)

organophosphorus compound (EXP)

orotic acid (ISO)

oxymetazoline (EXP)

ozone (ISO)

p-tert-Amylphenol (EXP)

pantoprazole (EXP)

paracetamol (EXP)

paraquat (ISO)

parathion (EXP)

PCB138 (ISO)

pedalitin (EXP)

pentamidine (EXP)

perfluorobutanesulfonic acid (EXP)

perfluorodecanoic acid (EXP)

perfluoroheptanoic acid (EXP)

perfluorohexanesulfonic acid (EXP)

perfluorooctane-1-sulfonic acid (EXP,ISO)

perfluorooctanoic acid (EXP,ISO)

perhexiline (EXP)

Perhexiline maleate (EXP)

permethrin (EXP,ISO)

phenacetin (ISO)

phencyclidine (EXP)

phenobarbital (EXP,ISO)

phenytoin (EXP,ISO)

PhIP (EXP)

phthalic acid (ISO)

physcion (EXP)

picoxystrobin (EXP)

pirinixic acid (ISO)

poly(I:C) (ISO)

pomalidomide (EXP)

prednisolone (ISO)

pregnenolone 16alpha-carbonitrile (ISO)

prochloraz (EXP)

profenofos (EXP)

progesterone (EXP)

proguanil (EXP)

propiconazole (EXP)

propranolol (EXP)

pterostilbene (EXP)

pyrene (ISO)

pyrrolidines (EXP)

quercetin (EXP)

quinidine (EXP,ISO)

quinine (EXP,ISO)

rabeprazole (EXP)

resveratrol (EXP,ISO)

Retrorsine (EXP)

Rhein (EXP)

rifampicin (EXP)

ritonavir (EXP)

rubiadin (EXP)

sertraline (EXP)

sibutramine (EXP)

sodium arsenite (EXP,ISO)

sophoranone (EXP)

speciogynine (EXP)

Sudan I (EXP)

sulfadimethoxine (ISO)

sulfaphenazole (EXP,ISO)

sulfasalazine (ISO)

Sunset Yellow FCF (EXP)

suramin (EXP)

tacrolimus hydrate (EXP)

tamoxifen (EXP)

Tanshinone I (EXP)

tert-butyl ethyl ether (ISO)

testosterone (ISO)

tetrachloromethane (ISO)

tetraconazole (EXP)

tetracycline (ISO)

thalidomide (EXP)

thiabendazole (EXP)

thiacloprid (EXP)

thiamethoxam (EXP)

thioacetamide (ISO)

thioridazine (EXP)

thiram (EXP)

ticlopidine (EXP)

titanium dioxide (ISO)

tofacitinib (EXP)

tolbutamide (EXP)

toluene (ISO)

trans-1,2-dichloroethene (ISO)

trans-chalcone (ISO)

trans-cinnamic acid (EXP)

tranylcypromine (EXP)

trichloroethene (ISO)

triclosan (EXP)

triflumuron (EXP)

troglitazone (EXP)

tryptamines (EXP)

ursodeoxycholic acid (ISO)

ursolic acid (EXP)

valdecoxib (ISO)

valproic acid (EXP,ISO)

vanoxerine dihydrochloride (EXP)

veliparib (EXP)

venlafaxine hydrochloride (EXP)

voriconazole (EXP)

warfarin (EXP)

zafirlukast (EXP)

zerumbone (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

arachidonate metabolic process (ISO)

epoxygenase P450 pathway (IBA,TAS)

fatty acid metabolic process (IEA)

lipid metabolic process (IEA)

long-chain fatty acid metabolic process (IDA)

monocarboxylic acid metabolic process (IEA)

monoterpenoid metabolic process (IDA)

omega-hydroxylase P450 pathway (TAS)

response to nutrient levels (ISO)

response to oxygen-containing compound (ISO)

response to xenobiotic stimulus (ISO)

steroid metabolic process (IMP)

terpenoid metabolic process (IEA)

xenobiotic catabolic process (IBA,IDA,ISO)

xenobiotic metabolic process (IDA,TAS)

Cellular Component

cytoplasm (IBA)

endoplasmic reticulum membrane (IEA,TAS)

Molecular Function

(R)-limonene 6-monooxygenase activity (IEA)

(S)-limonene 6-monooxygenase activity (IEA)

(S)-limonene 7-monooxygenase activity (IEA)

arachidonate 11,12-epoxygenase activity (ISO)

arachidonate 14,15-epoxygenase activity (ISO)

enzyme binding (IPI)

heme binding (IBA,IDA,IEA)

iron ion binding (IEA)

long-chain fatty acid omega-1 hydroxylase activity (IDA)

metal ion binding (IEA)

monooxygenase activity (IDA,IEA,ISO,TAS)

oxidoreductase activity (IDA,IEA)

oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (IEA)

oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (IBA,IEA)

oxygen binding (TAS)

steroid hydroxylase activity (IMP)

Molecular Pathway Annotations Click to see Annotation Detail View

arachidonic acid metabolic pathway (IEA)

axitinib pharmacokinetics pathway (TAS)

carbamazepine pharmacokinetics pathway (EXP)

citalopram pharmacodynamics pathway (EXP)

citalopram pharmacokinetics pathway (EXP)

clomipramine pharmacokinetics pathway (EXP)

clopidogrel pharmacodynamics pathway (EXP)

clopidogrel pharmacokinetics pathway (EXP)

cyclophosphamide pharmacodynamics pathway (EXP)

cyclophosphamide pharmacokinetics pathway (EXP)

doxepin pharmacokinetics pathway (EXP)

fluoxetine pharmacodynamics pathway (EXP)

fluoxetine pharmacokinetics pathway (EXP)

ibuprofen pharmacodynamics pathway (EXP)

ibuprofen pharmacokinetics pathway (EXP)

imipramine pharmacodynamics pathway (EXP)

imipramine pharmacokinetics pathway (EXP)

linoleic acid metabolic pathway (IEA)

methadone pharmacodynamics pathway (EXP)

methadone pharmacokinetics pathway (EXP)

phase I biotransformation pathway via cytochrome P450 (ISS)

phenytoin pharmacodynamics pathway (EXP)

retinol metabolic pathway (IEA)

tamoxifen pharmacokinetics pathway (IDA)

venlafaxine pharmacokinetics pathway (EXP)

warfarin pharmacokinetics pathway (TAS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal circulating creatine concentration (IAGP)

Acute coronary syndrome (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Cytochrome P450 CYP2C19 genotypes in Nigerian sickle-cell disease patients and normal controls.	Babalola CP, etal., J Clin Pharm Ther. 2010 Aug;35(4):471-7. doi: 10.1111/j.1365-2710.2009.01122.x.
2.	Meta-analysis of contribution of genetic polymorphisms in drug-metabolizing enzymes or transporters to axitinib pharmacokinetics.	Brennan M, etal., Eur J Clin Pharmacol. 2012 May;68(5):645-55. Epub 2011 Dec 15.
3.	Xenobiotic sensor- and metabolism-related gene variants in environmental sensitivity-related illnesses: a survey on the Italian population.	Caccamo D, etal., Oxid Med Cell Longev. 2013;2013:831969. doi: 10.1155/2013/831969. Epub 2013 Jul 7.
4.	Genotype analysis of the CYP2C19 gene in HCV-seropositive patients with cirrhosis and hepatocellular carcinoma.	Chau TK, etal., Life Sci. 2000 Aug 25;67(14):1719-24. doi: 10.1016/s0024-3205(00)00757-8.
5.	A prospective observational study of CYP2C19 polymorphisms and voriconazole plasma level in adult Thai patients with invasive aspergillosis.	Chuwongwattana S, etal., Drug Metab Pharmacokinet. 2016 Apr;31(2):117-22. doi: 10.1016/j.dmpk.2015.12.005. Epub 2016 Jan 12.
6.	CYP2C19 metabolizer phenotypes may affect the efficacy of statins on lowering small dense low-density lipoprotein cholesterol of patients with coronary artery disease.	Dai R, etal., Front Cardiovasc Med. 2022 Dec 19;9:1016126. doi: 10.3389/fcvm.2022.1016126. eCollection 2022.
7.	Frequency of the CYP2C19*17 polymorphism in a Chilean population and its effect on voriconazole plasma concentration in immunocompromised children.	Espinoza N, etal., Sci Rep. 2019 Jun 20;9(1):8863. doi: 10.1038/s41598-019-45345-2.
8.	Effect of genetic differences in omeprazole metabolism on cure rates for Helicobacter pylori infection and peptic ulcer.	Furuta T, etal., Ann Intern Med. 1998 Dec 15;129(12):1027-30. doi: 10.7326/0003-4819-129-12-199812150-00006.
9.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
10.	Interaction of bisphenol A with rat hepatic cytochrome P450 enzymes.	Hanioka N, etal., Chemosphere 2000 Oct;41(7):973-8.
11.	Effects of the CYP2C19 genetic polymorphism on gastritis, peptic ulcer disease, peptic ulcer bleeding and gastric cancer.	Jainan W and Vilaichone RK, Asian Pac J Cancer Prev. 2014;15(24):10957-60. doi: 10.7314/apjcp.2014.15.24.10957.
12.	Role of CYP2C19 gene polymorphism in acute alcohol withdrawal treatment with loading dose of diazepam in a South Indian population.	Jose M, etal., Eur J Clin Pharmacol. 2016 Jul;72(7):807-12. doi: 10.1007/s00228-016-2061-x. Epub 2016 Apr 20.
13.	Proguanil disposition and toxicity in malaria patients from Vanuatu with high frequencies of CYP2C19 mutations.	Kaneko A, etal., Pharmacogenetics. 1999 Jun;9(3):317-26.
14.	KEGG: Kyoto Encyclopedia of Genes and Genomes	KEGG
15.	NAT2, CYP2C9, CYP2C19, and CYP2E1 genetic polymorphisms in anti-TB drug-induced maculopapular eruption.	Kim SH, etal., Eur J Clin Pharmacol. 2011 Feb;67(2):121-7. doi: 10.1007/s00228-010-0912-4. Epub 2010 Oct 13.
16.	Alpha-hydroxylation of tamoxifen and toremifene by human and rat cytochrome P450 3A subfamily enzymes.	Kim SY, etal., Chem Res Toxicol. 2003 Sep;16(9):1138-44.
17.	Polymorphisms of CYP2C19 gene are associated with the efficacy of thalidomide based regimens in multiple myeloma.	Li Y, etal., Haematologica. 2007 Sep;92(9):1246-9. Epub 2007 Aug 1.
18.	Association of CYP2C19*2 and associated haplotypes with lower norendoxifen concentrations in tamoxifen-treated Asian breast cancer patients.	Lim JS, etal., Br J Clin Pharmacol. 2016 Jun;81(6):1142-52. doi: 10.1111/bcp.12886. Epub 2016 Mar 8.
19.	Phenobarbital-induced severe cutaneous adverse drug reactions are associated with CYP2C19*2 in Thai children.	Manuyakorn W, etal., Pediatr Allergy Immunol. 2013 May;24(3):299-303. doi: 10.1111/pai.12058. Epub 2013 Apr 3.
20.	Allelic variations in CYP2B6 and CYP2C19 and survival of patients receiving cyclophosphamide prior to myeloablative hematopoietic stem cell transplantation.	Melanson SE, etal., Am J Hematol. 2010 Dec;85(12):967-71. doi: 10.1002/ajh.21889.
21.	Long-Term Loss of Response in Proton Pump Inhibitor-Responsive Esophageal Eosinophilia Is Uncommon and Influenced by CYP2C19 Genotype and Rhinoconjunctivitis.	Molina-Infante J, etal., Am J Gastroenterol. 2015 Nov;110(11):1567-75. doi: 10.1038/ajg.2015.314. Epub 2015 Sep 29.
22.	CYP2C19*17 gain-of-function polymorphism is associated with peptic ulcer disease.	Musumba CO, etal., Clin Pharmacol Ther. 2013 Feb;93(2):195-203. doi: 10.1038/clpt.2012.215. Epub 2012 Oct 26.
23.	Influence of CYP2C19 on Helicobacter pylori eradication in Brazilian patients with functional dyspepsia.	Nabinger DD, etal., Genet Mol Res. 2016 Sep 16;15(3). pii: gmr8734. doi: 10.4238/gmr.15038734.
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PMID:28638276	PMID:28685218	PMID:28687336	PMID:28745576	PMID:28745582	PMID:28777243	PMID:28785581	PMID:28798474	PMID:28802144	PMID:28834922	PMID:28840784	PMID:28850715
PMID:28875498	PMID:28884817	PMID:28976264	PMID:28990182	PMID:29023140	PMID:29098786	PMID:29181698	PMID:29188612	PMID:29209919	PMID:29243114	PMID:29260275	PMID:29279531
PMID:29279846	PMID:29288619	PMID:29311135	PMID:29325448	PMID:29347970	PMID:29350207	PMID:29352151	PMID:29397568	PMID:29461866	PMID:29479969	PMID:29482947	PMID:29509167
PMID:29520080	PMID:29524040	PMID:29615454	PMID:29665549	PMID:29733119	PMID:29738309	PMID:29848980	PMID:29889439	PMID:29979852	PMID:30017169	PMID:30022682	PMID:30028231
PMID:30061570	PMID:30073432	PMID:30092595	PMID:30188374	PMID:30191759	PMID:30325490	PMID:30342278	PMID:30381727	PMID:30468857	PMID:30606386	PMID:30653146	PMID:30656556
PMID:30817183	PMID:30826566	PMID:30868490	PMID:30916611	PMID:30932939	PMID:30983508	PMID:31006731	PMID:31066578	PMID:31124417	PMID:31128914	PMID:31134829	PMID:31358955
PMID:31395432	PMID:31543510	PMID:31571629	PMID:31713493	PMID:31726963	PMID:31797717	PMID:31834317	PMID:31849282	PMID:31900240	PMID:31916702	PMID:31957547	PMID:32100936
PMID:32216088	PMID:32282698	PMID:32392440	PMID:32407266	PMID:32427413	PMID:32469422	PMID:32485484	PMID:32524837	PMID:32524842	PMID:32567426	PMID:32602114	PMID:32616329
PMID:32621542	PMID:32623598	PMID:32644829	PMID:32678355	PMID:32683556	PMID:32702814	PMID:32757668	PMID:32826605	PMID:32862511	PMID:32868386	PMID:32938199	PMID:32957760
PMID:33060488	PMID:33082528	PMID:33115391	PMID:33124772	PMID:33184726	PMID:33232775	PMID:33370281	PMID:33432065	PMID:33462345	PMID:33503046	PMID:33523336	PMID:33578542
PMID:33608663	PMID:33649514	PMID:33685396	PMID:33707344	PMID:33727661	PMID:33759177	PMID:33766706	PMID:33961781	PMID:34133409	PMID:34164723	PMID:34282075	PMID:34319054
PMID:34337835	PMID:34402388	PMID:34414773	PMID:34435592	PMID:34480108	PMID:34497262	PMID:34636928	PMID:34649359	PMID:34661267	PMID:34747629	PMID:34782755	PMID:34803003
PMID:34828364	PMID:34848811	PMID:34851561	PMID:34954768	PMID:34967544	PMID:35000048	PMID:35001019	PMID:35016407	PMID:35042400	PMID:35081606	PMID:35124810	PMID:35134542
PMID:35144415	PMID:35172619	PMID:35197312	PMID:35218180	PMID:35235711	PMID:35238961	PMID:35381649	PMID:35385889	PMID:35393395	PMID:35486119	PMID:35508605	PMID:35748236
PMID:35815173	PMID:35912831	PMID:35931695	PMID:36039802	PMID:36068210	PMID:36215918	PMID:36257936	PMID:36325266	PMID:36333412	PMID:36536486	PMID:36662390	PMID:36698099
PMID:36718958	PMID:36840850	PMID:36893562	PMID:36913175	PMID:36948156	PMID:36960518	PMID:37024851	PMID:37143396	PMID:37208337	PMID:37279000	PMID:37326083	PMID:37528442
PMID:37543868	PMID:37551775	PMID:37551831	PMID:37584614	PMID:37641483	PMID:37688505	PMID:37695751	PMID:37815926	PMID:37875597	PMID:37902256	PMID:38083918	PMID:38092392
PMID:38114408	PMID:38376298	PMID:38503672	PMID:38581109	PMID:38671468	PMID:38747453	PMID:38874073	PMID:39025838	PMID:39300676	PMID:40437099

Genomics

Comparative Map Data

CYP2C19
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	10	94,762,681 - 94,855,547 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	10	94,762,662 - 94,856,282 (+)	Ensembl			hg38	GRCh38
GRCh37	10	96,522,438 - 96,615,304 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	10	96,512,453 - 96,602,661 (+)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	10	96,512,452 - 96,602,661	NCBI
Celera	10	90,262,555 - 90,352,777 (+)	NCBI		Celera
Cytogenetic Map	10	q23.33	NCBI
HuRef	10	90,149,122 - 90,239,340 (+)	NCBI		HuRef
CHM1_1	10	96,804,212 - 96,894,435 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	10	95,641,807 - 95,734,675 (+)	NCBI		T2T-CHM13v2.0

Cyp2c38
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	19	39,379,109 - 39,451,519 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	19	39,378,000 - 39,451,519 (-)	Ensembl		GRCm39 Ensembl		GRCm39
GRCm38	19	39,389,556 - 39,463,103 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	19	39,389,556 - 39,463,075 (-)	Ensembl			mm10	GRCm38
MGSCv37	19	39,464,046 - 39,537,565 (-)	NCBI	MGSCv37	MGSCv37	mm9	NCBIm37
MGSCv36	19	39,442,867 - 39,516,386 (-)	NCBI		MGSCv36	mm8
MGSCv36	19	39,107,245 - 39,170,091 (-)	NCBI		MGSCv36	mm8
Celera	19	40,194,429 - 40,266,552 (-)	NCBI		Celera
Cytogenetic Map	19	C3	NCBI
cM Map	19	34.03	NCBI

Cyp2c6
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	247,879,058 - 247,916,804 (+)	NCBI	GRCr8	GRCr8		GRCr8
GRCr8 Ensembl	1	247,879,078 - 247,916,798 (+)	Ensembl				GRCr8
mRatBN7.2	1	237,938,521 - 237,976,238 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	237,693,094 - 238,057,596 (+)	Ensembl				mRatBN7.2
UTH_Rnor_SHR_Utx	1	245,663,590 - 245,701,320 (+)	NCBI	UTH_Rnor_SHR_Utx	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	252,778,874 - 252,807,379 (+)	NCBI	UTH_Rnor_SHRSP_BbbUtx_1.0	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	245,407,741 - 245,460,401 (+)	NCBI	UTH_Rnor_WKY_Bbb_1.0	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	147,713,879 - 147,814,410 (+)	NCBI	Rnor_6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	147,713,892 - 147,888,007 (+)	Ensembl			rn6	Rnor6.0
Rnor_5.0	1	154,005,928 - 154,103,310 (+)	NCBI	Rnor_5.0	Rnor_5.0	rn5
Rnor_5.0	1	153,451,394 - 153,454,476 (-)	NCBI	Rnor_5.0	Rnor_5.0	rn5
RGSC_v3.4	1	243,859,015 - 243,896,003 (+)	ENTREZGENE	RGSC_v3.4	RGSC_v3.4	rn4
Celera	1	137,119,477 - 137,156,491 (+)	NCBI		Celera
Cytogenetic Map	1	q53	NCBI

CYP2C19
(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	8	106,668,450 - 106,758,412 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	10	106,673,767 - 106,763,624 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	10	91,375,255 - 91,465,215 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	10	94,883,037 - 94,972,353 (+)	NCBI	PanPan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	10	94,884,472 - 94,970,065 (+)	Ensembl			panPan2	panpan1.1

CYP2C49
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	14	106,285,173 - 106,612,455 (+)	Ensembl			susScr11	Sscrofa11.1
Sscrofa11.1	14	106,571,803 - 106,612,082 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	14	116,191,543 - 116,244,868 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CYP2C19
(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	9	87,981,300 - 88,025,007 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666048	48,761,705 - 48,797,570 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in CYP2C19
86 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_000769.4(CYP2C19):c.681G>A (p.Pro227=)	single nucleotide variant	Clopidogrel response [RCV000018395]\|Mephenytoin, poor metabolism of [RCV000018393]\|Proguanil, poor metabolism of [RCV000018394]\|not provided [RCV000352637]\|not specified [RCV000610614]	Chr10:94781859 [GRCh38] Chr10:96541616 [GRCh37] Chr10:10q23.33	pathogenic\|likely benign\|drug response\|other
NM_000769.1(CYP2C19):c.1297C>T (p.Arg433Trp)	single nucleotide variant	CYP2C19: no function [RCV000783657]\|Mephenytoin, poor metabolism of [RCV000018396]\|not provided [RCV000348667]	Chr10:94852738 [GRCh38] Chr10:96612495 [GRCh37] Chr10:10q23.33	pathogenic\|drug response\|other
NM_000769.1(CYP2C19):c.636G>A (p.Trp212Ter)	single nucleotide variant	Acute coronary syndrome [RCV002280093]\|CYP2C19: no function [RCV000783656]\|Clopidogrel response [RCV004813044]\|Mephenytoin, poor metabolism of [RCV000018397]\|Proguanil, poor metabolism of [RCV000018398]\|not provided [RCV000291495]	Chr10:94780653 [GRCh38] Chr10:96540410 [GRCh37] Chr10:10q23.33	benign\|drug response\|other
NM_000769.1(CYP2C19):c.1A>G (p.Met1Val)	single nucleotide variant	CYP2C19: no function [RCV000782432]\|Mephenytoin, poor metabolism of [RCV000018399]\|not provided [RCV000383294]	Chr10:94762706 [GRCh38] Chr10:96522463 [GRCh37] Chr10:10q23.33	pathogenic\|likely benign\|drug response\|other
GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	copy number loss	See cases [RCV000052564]	Chr10:92626680..97755102 [GRCh38] Chr10:94386437..99514859 [GRCh37] Chr10:94376417..99504849 [NCBI36] Chr10:10q23.33-24.2	pathogenic
GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	copy number loss	See cases [RCV000052565]	Chr10:93181201..101356779 [GRCh38] Chr10:94940958..103116536 [GRCh37] Chr10:94930948..103106526 [NCBI36] Chr10:10q23.33-24.32	pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]\|See cases [RCV000053560]	Chr10:91048545..133620674 [GRCh38] Chr10:92808302..135434178 [GRCh37] Chr10:92798282..135284168 [NCBI36] Chr10:10q23.31-26.3	pathogenic
NM_000769.2(CYP2C19):c.48C>T (p.Leu16=)	single nucleotide variant	Malignant melanoma [RCV000069093]	Chr10:94762753 [GRCh38] Chr10:96522510 [GRCh37] Chr10:96512500 [NCBI36] Chr10:10q23.33	not provided
NM_000769.2(CYP2C19):c.73G>A (p.Gly25Arg)	single nucleotide variant	Malignant melanoma [RCV000069094]	Chr10:94762778 [GRCh38] Chr10:96522535 [GRCh37] Chr10:96512525 [NCBI36] Chr10:10q23.33	not provided
NM_000769.2(CYP2C19):c.74G>A (p.Gly25Glu)	single nucleotide variant	Malignant melanoma [RCV000069095]	Chr10:94762779 [GRCh38] Chr10:96522536 [GRCh37] Chr10:96512526 [NCBI36] Chr10:10q23.33	not provided
NM_000769.2(CYP2C19):c.276G>A (p.Glu92=)	single nucleotide variant	Malignant melanoma [RCV000069096]	Chr10:94775165 [GRCh38] Chr10:96534922 [GRCh37] Chr10:96524912 [NCBI36] Chr10:10q23.33	not provided
NM_000769.2(CYP2C19):c.332G>A (p.Gly111Glu)	single nucleotide variant	Malignant melanoma [RCV000069097]	Chr10:94775390 [GRCh38] Chr10:96535147 [GRCh37] Chr10:96525137 [NCBI36] Chr10:10q23.33	not provided
NM_000769.2(CYP2C19):c.666C>T (p.Ile222=)	single nucleotide variant	Malignant melanoma [RCV000069098]	Chr10:94781844 [GRCh38] Chr10:96541601 [GRCh37] Chr10:96531591 [NCBI36] Chr10:10q23.33	not provided
NM_000769.2(CYP2C19):c.1113C>T (p.Thr371=)	single nucleotide variant	Malignant melanoma [RCV000069099]	Chr10:94842988 [GRCh38] Chr10:96602745 [GRCh37] Chr10:96592735 [NCBI36] Chr10:10q23.33	not provided
NM_000769.2(CYP2C19):c.1128C>T (p.Phe376=)	single nucleotide variant	Malignant melanoma [RCV000069100]	Chr10:94843003 [GRCh38] Chr10:96602760 [GRCh37] Chr10:96592750 [NCBI36] Chr10:10q23.33	not provided
NM_000769.2(CYP2C19):c.853G>A (p.Glu285Lys)	single nucleotide variant	Malignant melanoma [RCV000062099]	Chr10:94820529 [GRCh38] Chr10:96580286 [GRCh37] Chr10:96570276 [NCBI36] Chr10:10q23.33	not provided
NM_000769.4(CYP2C19):c.1137C>A (p.Tyr379Ter)	single nucleotide variant	CYP2C19-related poor drug metabolism [RCV001332578]	Chr10:94843012 [GRCh38] Chr10:96602769 [GRCh37] Chr10:10q23.33	pathogenic
NM_000769.4(CYP2C19):c.-806C>A	single nucleotide variant	citalopram response - Metabolism/PK [RCV000211253]\|clopidogrel response - Dosage, Efficacy, Toxicity/ADR [RCV000211201]\|escitalopram response - Metabolism/PK [RCV000211375]	Chr10:94761900 [GRCh38] Chr10:96521657 [GRCh37] Chr10:10q23.33	drug response
GRCh38/hg38 10q23.33(chr10:94298267-95267990)x1	copy number loss	See cases [RCV000134773]	Chr10:94298267..95267990 [GRCh38] Chr10:96058024..97027747 [GRCh37] Chr10:96048014..97017737 [NCBI36] Chr10:10q23.33	uncertain significance
GRCh38/hg38 10q23.33(chr10:94694073-94853007)x1	copy number loss	See cases [RCV000136823]	Chr10:94694073..94853007 [GRCh38] Chr10:96453830..96612764 [GRCh37] Chr10:96443820..96602754 [NCBI36] Chr10:10q23.33	benign
GRCh38/hg38 10q23.33-24.1(chr10:94401557-95444828)x3	copy number gain	See cases [RCV000137970]	Chr10:94401557..95444828 [GRCh38] Chr10:96161314..97204585 [GRCh37] Chr10:96151304..97194575 [NCBI36] Chr10:10q23.33-24.1	uncertain significance
GRCh38/hg38 10q23.33-24.1(chr10:92643919-95471137)x1	copy number loss	See cases [RCV000137919]	Chr10:92643919..95471137 [GRCh38] Chr10:94403676..97230894 [GRCh37] Chr10:94393656..97220884 [NCBI36] Chr10:10q23.33-24.1	pathogenic
GRCh38/hg38 10q23.33(chr10:94760469-94780679)x1	copy number loss	See cases [RCV000141184]	Chr10:94760469..94780679 [GRCh38] Chr10:96520226..96540436 [GRCh37] Chr10:96510216..96530426 [NCBI36] Chr10:10q23.33	benign
GRCh38/hg38 10q23.33-24.1(chr10:94376979-95466604)x3	copy number gain	See cases [RCV000142079]	Chr10:94376979..95466604 [GRCh38] Chr10:96136736..97226361 [GRCh37] Chr10:96126726..97216351 [NCBI36] Chr10:10q23.33-24.1	uncertain significance
Single allele	deletion	Normal pregnancy [RCV000161609]	Chr10:94739953..94804000 [GRCh38] Chr10:96499710..96563757 [GRCh37] Chr10:10q23.33	not provided
NM_000769.1(CYP2C19):c.358T>C (p.Trp120Arg)	single nucleotide variant	CYP2C19: no function [RCV000783659]\|not provided [RCV000394401]	Chr10:94775416 [GRCh38] Chr10:96535173 [GRCh37] Chr10:10q23.33	drug response\|other
GRCh38/hg38 10q23.33(chr10:94739953-94797578)x1	copy number loss	Premature ovarian failure [RCV000225238]	Chr10:94739953..94797578 [GRCh38] Chr10:96499710..96557335 [GRCh37] Chr10:10q23.33	benign
NM_000769.1(CYP2C19):c.-806C>T	single nucleotide variant	CYP2C19: increased function [RCV000782438]\|Clopidogrel response [RCV004813048]\|not provided [RCV000326411]	Chr10:94761900 [GRCh38] Chr10:96521657 [GRCh37] Chr10:10q23.33	benign\|drug response\|other
GRCh37/hg19 10q23.33-24.1(chr10:94393383-97219175)	copy number loss	not provided [RCV000767566]	Chr10:94393383..97219175 [GRCh37] Chr10:10q23.33-24.1	likely pathogenic
GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384)x1	copy number loss	See cases [RCV000447362]	Chr10:92667881..98970384 [GRCh37] Chr10:10q23.31-24.1	pathogenic
GRCh37/hg19 10q23.33(chr10:96383040-96623950)x1	copy number loss	See cases [RCV000447385]	Chr10:96383040..96623950 [GRCh37] Chr10:10q23.33	uncertain significance
GRCh37/hg19 10q23.33(chr10:96401653-96523474)x1	copy number loss	See cases [RCV000446750]	Chr10:96401653..96523474 [GRCh37] Chr10:10q23.33	likely benign
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	copy number loss	Poly (ADP-Ribose) polymerase inhibitor response [RCV000431909]	Chr10:85557432..105804295 [GRCh37] Chr10:10q23.1-25.1	pathogenic\|drug response
GRCh37/hg19 10q23.33(chr10:96522575-96702831)x3	copy number gain	See cases [RCV000448722]	Chr10:96522575..96702831 [GRCh37] Chr10:10q23.33	likely benign
GRCh37/hg19 10q23.33(chr10:96497751-96560546)	copy number loss	Abnormal esophagus morphology [RCV000416919]	Chr10:96497751..96560546 [GRCh37] Chr10:10q23.33	benign
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	copy number gain	See cases [RCV000448750]	Chr10:93297..135378918 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	copy number gain	See cases [RCV000511389]	Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3	pathogenic\|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	copy number gain	See cases [RCV000510861]	Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	copy number gain	See cases [RCV000510972]	Chr10:93283493..135427143 [GRCh37] Chr10:10q23.32-26.3	pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	copy number loss	Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438]	Chr10:42347406..135534747 [GRCh37] Chr10:10q11.21-26.3	drug response
GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1	copy number loss	See cases [RCV000512315]	Chr10:93908171..101809723 [GRCh37] Chr10:10q23.32-24.2	pathogenic
GRCh37/hg19 10q23.33(chr10:96575687-96711450)x3	copy number gain	not provided [RCV000659231]	Chr10:96575687..96711450 [GRCh37] Chr10:10q23.33	likely benign
GRCh37/hg19 10q23.33(chr10:96339490-96546534)x1	copy number loss	not provided [RCV000683203]	Chr10:96339490..96546534 [GRCh37] Chr10:10q23.33	uncertain significance
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	copy number gain	not provided [RCV000683291]	Chr10:94346520..135427143 [GRCh37] Chr10:10q23.33-26.3	pathogenic
GRCh37/hg19 10q23.33(chr10:96407978-96622313)x1	copy number loss	not provided [RCV000737279]	Chr10:96407978..96622313 [GRCh37] Chr10:10q23.33	benign
GRCh37/hg19 10q23.33(chr10:96528208-96541982)x1	copy number loss	not provided [RCV000749780]	Chr10:96528208..96541982 [GRCh37] Chr10:10q23.33	benign
GRCh37/hg19 10q23.33(chr10:96541982-96602398)x0	copy number loss	not provided [RCV000749781]	Chr10:96541982..96602398 [GRCh37] Chr10:10q23.33	benign
GRCh37/hg19 10q23.33(chr10:96541982-96647117)x0	copy number loss	not provided [RCV000749782]	Chr10:96541982..96647117 [GRCh37] Chr10:10q23.33	benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3	copy number gain	not provided [RCV000749464]	Chr10:73232..135524321 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3	copy number gain	not provided [RCV000749465]	Chr10:98087..135477883 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
NM_000769.1(CYP2C19):c.991A>G (p.Ile331Val)	single nucleotide variant	not provided [RCV000948522]	Chr10:94842866 [GRCh38] Chr10:96602623 [GRCh37] Chr10:10q23.33	benign
NM_000769.4(CYP2C19):c.99C>T (p.Pro33=)	single nucleotide variant	not provided [RCV000948208]	Chr10:94762804 [GRCh38] Chr10:96522561 [GRCh37] Chr10:10q23.33	benign
CYP2C19*26	single nucleotide variant	CYP2C19: decreased function [RCV000782437]	Chr10:94781944 [GRCh38] Chr10:96541701 [GRCh37] Chr10:10q23.33	drug response
CYP2C19*31	single nucleotide variant	CYP2C19: uncertain function [RCV000782434]	Chr10:94775121 [GRCh38] Chr10:96534878 [GRCh37] Chr10:10q23.33	drug response
CYP2C19*10	single nucleotide variant	CYP2C19: decreased function [RCV000783652]	Chr10:94781858 [GRCh38] Chr10:96541615 [GRCh37] Chr10:10q23.33	drug response
CYP2C19*19	single nucleotide variant	CYP2C19: decreased function [RCV000783651]	Chr10:94762856 [GRCh38] Chr10:96522613 [GRCh37] Chr10:10q23.33	drug response
CYP2C19*13	single nucleotide variant	CYP2C19: normal function [RCV000782427]	Chr10:94849995 [GRCh38] Chr10:96609752 [GRCh37] Chr10:10q23.33	drug response
CYP2C19*15	single nucleotide variant	CYP2C19: normal function [RCV000783650]\|not provided [RCV000893758]	Chr10:94762760 [GRCh38] Chr10:96522517 [GRCh37] Chr10:10q23.33	benign\|drug response
CYP2C19*29	single nucleotide variant	CYP2C19: uncertain function [RCV000783661]	Chr10:94762788 [GRCh38] Chr10:96522545 [GRCh37] Chr10:10q23.33	drug response
CYP2C19*35	single nucleotide variant	CYP2C19: no function [RCV000782431]	Chr10:94775367 [GRCh38] Chr10:96535124 [GRCh37] Chr10:10q23.33	drug response
CYP2C19*27	single nucleotide variant	CYP2C19: uncertain function [RCV000782433]	Chr10:94761665 [GRCh38] Chr10:96521422 [GRCh37] Chr10:10q23.33	drug response
GRCh37/hg19 10q23.33(chr10:96534277-96599102)x1	copy number loss	not provided [RCV000847912]	Chr10:96534277..96599102 [GRCh37] Chr10:10q23.33	uncertain significance
CYP2C19*11	single nucleotide variant	CYP2C19: normal function [RCV000782426]\|not provided [RCV003884727]	Chr10:94775507 [GRCh38] Chr10:96535264 [GRCh37] Chr10:10q23.33	likely benign\|drug response
CYP2C19*14	single nucleotide variant	CYP2C19: uncertain function [RCV000783662]	Chr10:94762755 [GRCh38] Chr10:96522512 [GRCh37] Chr10:10q23.33	drug response
CYP2C19*23	single nucleotide variant	CYP2C19: uncertain function [RCV000783663]	Chr10:94775160 [GRCh38] Chr10:96534917 [GRCh37] Chr10:10q23.33	drug response
CYP2C19*30	single nucleotide variant	CYP2C19: uncertain function [RCV000782429]	Chr10:94775106 [GRCh38] Chr10:96534863 [GRCh37] Chr10:10q23.33	drug response
NM_000769.1(CYP2C19):c.431G>A (p.Arg144His)	single nucleotide variant	CYP2C19: decreased function [RCV000783660]\|not provided [RCV001770046]	Chr10:94775489 [GRCh38] Chr10:96535246 [GRCh37] Chr10:10q23.33	likely benign\|drug response
CYP2C19*22	single nucleotide variant	CYP2C19: no function [RCV000782424]	Chr10:94780574 [GRCh38] Chr10:96540331 [GRCh37] Chr10:10q23.33	drug response
NM_000769.1(CYP2C19):c.395G>A (p.Arg132Gln)	single nucleotide variant	CYP2C19: no function [RCV000782436]	Chr10:94775453 [GRCh38] Chr10:96535210 [GRCh37] Chr10:10q23.33	drug response
NM_000769.1(CYP2C19):c.819+2T>A	single nucleotide variant	CYP2C19: no function [RCV000783658]	Chr10:94781999 [GRCh38] Chr10:96541756 [GRCh37] Chr10:10q23.33	drug response
CYP2C19*32	single nucleotide variant	CYP2C19: uncertain function [RCV000782422]	Chr10:94775185 [GRCh38] Chr10:96534942 [GRCh37] Chr10:10q23.33	drug response
GRCh37/hg19 10q23.33(chr10:96533912-96598380)x1	copy number loss	not provided [RCV000847207]	Chr10:96533912..96598380 [GRCh37] Chr10:10q23.33	uncertain significance
CYP2C19*16	single nucleotide variant	CYP2C19: decreased function [RCV000782430]	Chr10:94852765 [GRCh38] Chr10:96612522 [GRCh37] Chr10:10q23.33	drug response
CYP2C19*25	single nucleotide variant	CYP2C19: decreased function [RCV000783653]	Chr10:94852785 [GRCh38] Chr10:96612542 [GRCh37] Chr10:10q23.33	drug response
CYP2C19*1	variation	CYP2C19: normal function [RCV000783655]	Chr10:94762681..94853205 [GRCh38] Chr10:10q23.33	drug response
CYP2C19*12	single nucleotide variant	CYP2C19: uncertain function [RCV000782435]	Chr10:94852914 [GRCh38] Chr10:96612671 [GRCh37] Chr10:10q23.33	pathogenic\|drug response
CYP2C19*33	single nucleotide variant	CYP2C19: uncertain function [RCV000782421]	Chr10:94780579 [GRCh38] Chr10:96540336 [GRCh37] Chr10:10q23.33	drug response
GRCh37/hg19 10q23.33(chr10:96558287-96606761)x1	copy number loss	not provided [RCV000845773]	Chr10:96558287..96606761 [GRCh37] Chr10:10q23.33	uncertain significance
CYP2C19*18	single nucleotide variant	CYP2C19: normal function [RCV000782423]	Chr10:94842861 [GRCh38] Chr10:96602618 [GRCh37] Chr10:10q23.33	drug response
GRCh37/hg19 10q23.33(chr10:96501534-96548712)x1	copy number loss	not provided [RCV000849788]	Chr10:96501534..96548712 [GRCh37] Chr10:10q23.33	uncertain significance
GRCh37/hg19 10q23.33(chr10:96562918-96606761)x1	copy number loss	not provided [RCV000846897]	Chr10:96562918..96606761 [GRCh37] Chr10:10q23.33	uncertain significance
GRCh37/hg19 10q23.33(chr10:96502305-96562508)x1	copy number loss	not provided [RCV000847317]	Chr10:96502305..96562508 [GRCh37] Chr10:10q23.33	uncertain significance
NM_000769.4(CYP2C19):c.244G>A (p.Val82Met)	single nucleotide variant	not specified [RCV004301852]	Chr10:94775133 [GRCh38] Chr10:96534890 [GRCh37] Chr10:10q23.33	uncertain significance
NM_000769.4(CYP2C19):c.1173C>A (p.Leu391=)	single nucleotide variant	not provided [RCV000924496]	Chr10:94849940 [GRCh38] Chr10:96609697 [GRCh37] Chr10:10q23.33	likely benign
NM_000769.4(CYP2C19):c.1251A>C (p.Gly417=)	single nucleotide variant	not provided [RCV001687793]	Chr10:94850018 [GRCh38] Chr10:96609775 [GRCh37] Chr10:10q23.33	benign
GRCh37/hg19 10q23.33-24.1(chr10:96140621-97222801)x3	copy number gain	not provided [RCV001258459]	Chr10:96140621..97222801 [GRCh37] Chr10:10q23.33-24.1	uncertain significance
NM_000769.4(CYP2C19):c.681G>T (p.Pro227=)	single nucleotide variant	Acute coronary syndrome [RCV002280383]	Chr10:94781859 [GRCh38] Chr10:96541616 [GRCh37] Chr10:10q23.33	drug response
NM_000769.4(CYP2C19):c.37T>A (p.Cys13Ser)	single nucleotide variant	not specified [RCV004608483]	Chr10:94762742 [GRCh38] Chr10:96522499 [GRCh37] Chr10:10q23.33	uncertain significance
GRCh37/hg19 10q23.33(chr10:96497260-96558710)x1	copy number loss	not provided [RCV001827615]	Chr10:96497260..96558710 [GRCh37] Chr10:10q23.33	likely benign
GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384)	copy number loss	not specified [RCV002052882]	Chr10:92667881..98970384 [GRCh37] Chr10:10q23.31-24.1	pathogenic
GRCh37/hg19 10q23.33-24.1(chr10:96136737-97224160)x3	copy number gain	not provided [RCV001829229]	Chr10:96136737..97224160 [GRCh37] Chr10:10q23.33-24.1	uncertain significance
NM_000769.4(CYP2C19):c.955G>A (p.Val319Ile)	single nucleotide variant	not specified [RCV004608482]	Chr10:94820631 [GRCh38] Chr10:96580388 [GRCh37] Chr10:10q23.33	uncertain significance
GRCh37/hg19 10q23.33-24.1(chr10:96155285-97224160)x3	copy number gain	not provided [RCV002474676]	Chr10:96155285..97224160 [GRCh37] Chr10:10q23.33-24.1	uncertain significance
NM_000769.4(CYP2C19):c.1085T>C (p.Ile362Thr)	single nucleotide variant	not specified [RCV004142113]	Chr10:94842960 [GRCh38] Chr10:96602717 [GRCh37] Chr10:10q23.33	uncertain significance
NM_000769.4(CYP2C19):c.1188T>A (p.His396Gln)	single nucleotide variant	not specified [RCV004138390]	Chr10:94849955 [GRCh38] Chr10:96609712 [GRCh37] Chr10:10q23.33	uncertain significance
NM_000769.4(CYP2C19):c.644T>C (p.Ile215Thr)	single nucleotide variant	not specified [RCV004134835]	Chr10:94781822 [GRCh38] Chr10:96541579 [GRCh37] Chr10:10q23.33	uncertain significance
NM_000769.4(CYP2C19):c.595G>A (p.Glu199Lys)	single nucleotide variant	not specified [RCV004163261]	Chr10:94780612 [GRCh38] Chr10:96540369 [GRCh37] Chr10:10q23.33	uncertain significance
NM_000769.4(CYP2C19):c.430C>A (p.Arg144Ser)	single nucleotide variant	not specified [RCV004265313]	Chr10:94775488 [GRCh38] Chr10:96535245 [GRCh37] Chr10:10q23.33	uncertain significance
GRCh37/hg19 10q23.32-24.1(chr10:93281410-97596360)x1	copy number loss	See cases [RCV003159569]	Chr10:93281410..97596360 [GRCh37] Chr10:10q23.32-24.1	pathogenic
NM_000769.4(CYP2C19):c.1094G>C (p.Ser365Thr)	single nucleotide variant	not specified [RCV004256132]	Chr10:94842969 [GRCh38] Chr10:96602726 [GRCh37] Chr10:10q23.33	uncertain significance
NM_000769.4(CYP2C19):c.392T>C (p.Leu131Pro)	single nucleotide variant	not specified [RCV004264354]	Chr10:94775450 [GRCh38] Chr10:96535207 [GRCh37] Chr10:10q23.33	uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	copy number gain	Distal trisomy 10q [RCV003319593]	Chr10:11138692..135427143 [GRCh37] Chr10:10p14-q26.3	pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	copy number loss	Distal 10q deletion syndrome [RCV003319583]	Chr10:12829206..135427143 [GRCh37] Chr10:10p13-q26.3	pathogenic
NM_000769.4(CYP2C19):c.1409C>T (p.Thr470Ile)	single nucleotide variant	not specified [RCV004365181]	Chr10:94852850 [GRCh38] Chr10:96612607 [GRCh37] Chr10:10q23.33	uncertain significance
NM_000769.4(CYP2C19):c.614T>G (p.Ile205Ser)	single nucleotide variant	not specified [RCV004337308]	Chr10:94780631 [GRCh38] Chr10:96540388 [GRCh37] Chr10:10q23.33	uncertain significance
NM_000769.4(CYP2C19):c.1059C>T (p.His353=)	single nucleotide variant	not provided [RCV003422753]	Chr10:94842934 [GRCh38] Chr10:96602691 [GRCh37] Chr10:10q23.33	benign
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	copy number gain	not provided [RCV003484798]	Chr10:42709645..100834951 [GRCh37] Chr10:10q11.21-24.2	pathogenic
GRCh37/hg19 10q23.33-24.1(chr10:96298410-97426086)x3	copy number gain	not provided [RCV003484810]	Chr10:96298410..97426086 [GRCh37] Chr10:10q23.33-24.1	uncertain significance
GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	copy number loss	not specified [RCV003986912]	Chr10:94283369..101820913 [GRCh37] Chr10:10q23.33-24.2	pathogenic
GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	copy number loss	not specified [RCV003986861]	Chr10:90796994..100067505 [GRCh37] Chr10:10q23.31-24.2	pathogenic
GRCh37/hg19 10q23.33-24.1(chr10:96180463-97226361)x3	copy number gain	not specified [RCV003986879]	Chr10:96180463..97226361 [GRCh37] Chr10:10q23.33-24.1	uncertain significance
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	copy number gain	not specified [RCV003986893]	Chr10:95078198..135427143 [GRCh37] Chr10:10q23.33-26.3	pathogenic
NM_000769.4(CYP2C19):c.1067A>C (p.Gln356Pro)	single nucleotide variant	not specified [RCV004367909]	Chr10:94842942 [GRCh38] Chr10:96602699 [GRCh37] Chr10:10q23.33	uncertain significance
NM_000769.4(CYP2C19):c.1252A>G (p.Asn418Asp)	single nucleotide variant	not specified [RCV004367911]	Chr10:94850019 [GRCh38] Chr10:96609776 [GRCh37] Chr10:10q23.33	uncertain significance
NM_000769.4(CYP2C19):c.260T>A (p.Leu87Gln)	single nucleotide variant	not specified [RCV004367912]	Chr10:94775149 [GRCh38] Chr10:96534906 [GRCh37] Chr10:10q23.33	uncertain significance
NM_000769.4(CYP2C19):c.910A>C (p.Thr304Pro)	single nucleotide variant	not specified [RCV004367914]	Chr10:94820586 [GRCh38] Chr10:96580343 [GRCh37] Chr10:10q23.33	uncertain significance
NM_000769.4(CYP2C19):c.1240G>C (p.Asp414His)	single nucleotide variant	not specified [RCV004367910]	Chr10:94850007 [GRCh38] Chr10:96609764 [GRCh37] Chr10:10q23.33	uncertain significance
NM_000769.4(CYP2C19):c.664A>G (p.Ile222Val)	single nucleotide variant	not specified [RCV004367913]	Chr10:94781842 [GRCh38] Chr10:96541599 [GRCh37] Chr10:10q23.33	uncertain significance
NC_000010.11:g.94645745G>A	single nucleotide variant	warfarin response - Dosage [RCV000211190]	Chr10:94645745 [GRCh38] Chr10:94645745..94645746 [GRCh38] Chr10:96405502 [GRCh37] Chr10:96405502..96405503 [GRCh37] Chr10:10q23.33	drug response
NM_000769.4(CYP2C19):c.146A>T (p.Asp49Val)	single nucleotide variant	not specified [RCV004913272]	Chr10:94762851 [GRCh38] Chr10:96522608 [GRCh37] Chr10:10q23.33	uncertain significance
GRCh37/hg19 10q23.2-24.31(chr10:88755921-102461203)x1	copy number loss	not provided [RCV004819364]	Chr10:88755921..102461203 [GRCh37] Chr10:10q23.2-24.31	pathogenic
NM_000769.4(CYP2C19):c.959C>T (p.Thr320Ile)	single nucleotide variant	not specified [RCV004913273]	Chr10:94820635 [GRCh38] Chr10:96580392 [GRCh37] Chr10:10q23.33	uncertain significance
NM_000769.4(CYP2C19):c.404G>T (p.Gly135Val)	single nucleotide variant	not specified [RCV004913271]	Chr10:94775462 [GRCh38] Chr10:96535219 [GRCh37] Chr10:10q23.33	uncertain significance
NM_000769.4(CYP2C19):c.69C>G (p.Ser23Arg)	single nucleotide variant	not specified [RCV004913274]	Chr10:94762774 [GRCh38] Chr10:96522531 [GRCh37] Chr10:10q23.33	likely benign
NM_000769.4(CYP2C19):c.182A>G (p.Tyr61Cys)	single nucleotide variant	not specified [RCV005320711]	Chr10:94775071 [GRCh38] Chr10:96534828 [GRCh37] Chr10:10q23.33	uncertain significance
NM_000769.4(CYP2C19):c.491G>T (p.Cys164Phe)	single nucleotide variant	not specified [RCV005320712]	Chr10:94780508 [GRCh38] Chr10:96540265 [GRCh37] Chr10:10q23.33	uncertain significance
NM_000769.4(CYP2C19):c.1393A>G (p.Lys465Glu)	single nucleotide variant	not specified [RCV005320709]	Chr10:94852834 [GRCh38] Chr10:96612591 [GRCh37] Chr10:10q23.33	uncertain significance
NM_000769.4(CYP2C19):c.1406C>A (p.Thr469Lys)	single nucleotide variant	not specified [RCV005320710]	Chr10:94852847 [GRCh38] Chr10:96612604 [GRCh37] Chr10:10q23.33	uncertain significance
NM_000769.4(CYP2C19):c.1386T>G (p.Ile462Met)	single nucleotide variant	not specified [RCV005320708]	Chr10:94852827 [GRCh38] Chr10:96612584 [GRCh37] Chr10:10q23.33	uncertain significance
NM_000769.4(CYP2C19):c.335T>C (p.Ile112Thr)	single nucleotide variant	not specified [RCV005320713]	Chr10:94775393 [GRCh38] Chr10:96535150 [GRCh37] Chr10:10q23.33	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	314
Count of miRNA genes:	247
Interacting mature miRNAs:	254
Transcripts:	ENST00000371321, ENST00000464755, ENST00000480405
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
628868731	GWAS2776960_H	4-allylphenol sulfate measurement QTL GWAS2776960 (human)		6e-13	4-allylphenol sulfate measurement		10	94793996	94793997	Human
597138709	GWAS1234783_H	4-allylphenol sulfate measurement QTL GWAS1234783 (human)		6e-13	4-allylphenol sulfate measurement		10	94793996	94793997	Human
598018599	GWAS1737898_H	response to clopidogrel, platelet reactivity efficacy QTL GWAS1737898 (human)		1e-33	response to clopidogrel, platelet reactivity efficacy		10	94842641	94842642	Human
597376030	GWAS1472104_H	migraine disorder QTL GWAS1472104 (human)		0.000004	migraine disorder		10	94774506	94774507	Human
597824553	GWAS1691944_H	response to clopidogrel QTL GWAS1691944 (human)		1e-33	response to clopidogrel		10	94842641	94842642	Human
597075096	GWAS1171170_H	diastolic blood pressure QTL GWAS1171170 (human)		0.0000003	arterial blood pressure trait (VT:2000000)	diastolic blood pressure (CMO:0000005)	10	94804000	94804001	Human
407145684	GWAS794660_H	S-warfarin to R-warfarin ratio measurement QTL GWAS794660 (human)		2e-17	S-warfarin to R-warfarin ratio measurement		10	94808278	94808279	Human
407145685	GWAS794661_H	S-warfarin to R-warfarin ratio measurement QTL GWAS794661 (human)		5e-10	S-warfarin to R-warfarin ratio measurement		10	94773070	94773071	Human
597187209	GWAS1283283_H	X-17653 measurement QTL GWAS1283283 (human)		5e-10	X-17653 measurement		10	94814498	94814499	Human
628852074	GWAS2760303_H	S-6-hydroxywarfarin to S-warfarin ratio measurement QTL GWAS2760303 (human)		4e-08	S-6-hydroxywarfarin to S-warfarin ratio measurement		10	94829819	94829820	Human
2314551	GLUCO52_H	Glucose level QTL 52 (human)	1.4		Glucose level		10	77605006	103605006	Human
628770029	GWAS2678258_H	appendicular lean mass QTL GWAS2678258 (human)		5e-33	body lean mass (VT:0010483)		10	94831527	94831528	Human
597084556	GWAS1180630_H	platelet reactivity measurement, response to clopidogrel QTL GWAS1180630 (human)		1e-33	platelet reactivity measurement, response to clopidogrel		10	94842641	94842642	Human
597075340	GWAS1171414_H	mean arterial pressure QTL GWAS1171414 (human)		0.000001	arterial blood pressure trait (VT:2000000)	mean arterial blood pressure (CMO:0000009)	10	94804000	94804001	Human
597187970	GWAS1284044_H	X-12544 measurement QTL GWAS1284044 (human)		8e-11	X-12544 measurement		10	94814942	94814943	Human
628866778	GWAS2775007_H	X-11308 measurement QTL GWAS2775007 (human)		2e-41	X-11308 measurement		10	94822917	94822918	Human
597139508	GWAS1235582_H	X-11308 measurement QTL GWAS1235582 (human)		2e-41	X-11308 measurement		10	94822917	94822918	Human
597282874	GWAS1378948_H	hemoglobin A1 measurement QTL GWAS1378948 (human)		2e-09	hemoglobin A1 measurement		10	94849429	94849430	Human
616964197	GWAS1981696_H	migraine disorder QTL GWAS1981696 (human)		0.000004	migraine disorder		10	94774506	94774507	Human
597229629	GWAS1325703_H	plasma clozapine-to-N-desmethylclozapine ratio measurement QTL GWAS1325703 (human)		5e-14	plasma clozapine-to-N-desmethylclozapine ratio measurement		10	94787706	94787707	Human
628864735	GWAS2772964_H	thymol sulfate measurement QTL GWAS2772964 (human)		6e-17	thymol sulfate measurement		10	94802231	94802232	Human
407066086	GWAS715062_H	X-21258 measurement QTL GWAS715062 (human)		5e-16	X-21258 measurement		10	94797455	94797456	Human
407066085	GWAS715061_H	X-21258 measurement QTL GWAS715061 (human)		5e-20	X-21258 measurement		10	94797455	94797456	Human
628671696	GWAS2579925_H	lean body mass QTL GWAS2579925 (human)		2e-09	body lean mass (VT:0010483)	total body lean mass (CMO:0003950)	10	94836395	94836396	Human
407025259	GWAS674235_H	X-17653 measurement QTL GWAS674235 (human)		5e-10	X-17653 measurement		10	94814498	94814499	Human
407306221	GWAS955197_H	plasma clozapine-to-N-desmethylclozapine ratio measurement QTL GWAS955197 (human)		5e-14	plasma clozapine-to-N-desmethylclozapine ratio measurement		10	94787706	94787707	Human
597335607	GWAS1431681_H	S-warfarin measurement QTL GWAS1431681 (human)		0.000009	S-warfarin measurement		10	94808278	94808279	Human
616495886	GWAS1892469_H	1,3-dimethylurate measurement QTL GWAS1892469 (human)		0.000006	1,3-dimethylurate measurement		10	94771841	94771842	Human
628750537	GWAS2658766_H	size QTL GWAS2658766 (human)		2e-08	size		10	94814191	94814192	Human
406929271	GWAS578247_H	X-11308 measurement QTL GWAS578247 (human)		2e-41	X-11308 measurement		10	94822917	94822918	Human
628798786	GWAS2707015_H	S-warfarin measurement QTL GWAS2707015 (human)		0.000009	S-warfarin measurement		10	94808278	94808279	Human
407270911	GWAS919887_H	serum clozapine-to-N-desmethylclozapine ratio measurement QTL GWAS919887 (human)		1e-16	serum clozapine-to-N-desmethylclozapine ratio measurement		10	94787706	94787707	Human
628707395	GWAS2615624_H	X-21258 measurement QTL GWAS2615624 (human)		5e-16	X-21258 measurement		10	94797455	94797456	Human
406901371	GWAS550347_H	androsterone sulfate measurement QTL GWAS550347 (human)		2e-09	androsterone sulfate measurement		10	94827532	94827533	Human
628707394	GWAS2615623_H	X-21258 measurement QTL GWAS2615623 (human)		5e-20	X-21258 measurement		10	94797455	94797456	Human
407135992	GWAS784968_H	diastolic blood pressure QTL GWAS784968 (human)		0.0000003	diastolic blood pressure		10	94804000	94804001	Human
597197479	GWAS1293553_H	lean body mass QTL GWAS1293553 (human)		2e-09	lean body mass		10	94836395	94836396	Human
597139156	GWAS1235230_H	thymol sulfate measurement QTL GWAS1235230 (human)		6e-17	thymol sulfate measurement		10	94802231	94802232	Human
407206273	GWAS855249_H	appendicular lean mass QTL GWAS855249 (human)		5e-33	appendicular lean mass		10	94831527	94831528	Human
596954706	GWAS1074225_H	size QTL GWAS1074225 (human)		2e-08	size		10	94814191	94814192	Human
628626750	GWAS2534979_H	systolic blood pressure QTL GWAS2534979 (human)		2e-09	arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	10	94827994	94827995	Human
407339648	GWAS988624_H	hemoglobin A1 measurement QTL GWAS988624 (human)		2e-09	hemoglobin A1 measurement		10	94849429	94849430	Human
407303822	GWAS952798_H	lean body mass QTL GWAS952798 (human)		2e-09	lean body mass		10	94836395	94836396	Human
407025160	GWAS674136_H	X-12544 measurement QTL GWAS674136 (human)		8e-11	X-12544 measurement		10	94814942	94814943	Human
597086428	GWAS1182502_H	serum clozapine-to-N-desmethylclozapine ratio measurement QTL GWAS1182502 (human)		1e-16	serum clozapine-to-N-desmethylclozapine ratio measurement		10	94787706	94787707	Human
628759216	GWAS2667445_H	X-17653 measurement QTL GWAS2667445 (human)		5e-10	X-17653 measurement		10	94814498	94814499	Human
616552434	GWAS1949017_H	bilirubin measurement QTL GWAS1949017 (human)		2e-13	bilirubin measurement		10	94812174	94812175	Human
406904720	GWAS553696_H	S-warfarin measurement QTL GWAS553696 (human)		0.000009	S-warfarin measurement		10	94808278	94808279	Human
597333195	GWAS1429269_H	S-6-hydroxywarfarin to S-warfarin ratio measurement QTL GWAS1429269 (human)		4e-08	S-6-hydroxywarfarin to S-warfarin ratio measurement		10	94829819	94829820	Human
597313099	GWAS1409173_H	X-21258 measurement QTL GWAS1409173 (human)		5e-20	X-21258 measurement		10	94797455	94797456	Human
597291085	GWAS1387159_H	size QTL GWAS1387159 (human)		2e-08	size		10	94814191	94814192	Human
597313100	GWAS1409174_H	X-21258 measurement QTL GWAS1409174 (human)		5e-16	X-21258 measurement		10	94797455	94797456	Human
628497582	GWAS2405811_H	plasma clozapine-to-N-desmethylclozapine ratio measurement QTL GWAS2405811 (human)		5e-14	plasma clozapine-to-N-desmethylclozapine ratio measurement		10	94787706	94787707	Human
407125405	GWAS774381_H	response to anticoagulant QTL GWAS774381 (human)		0.0000003	response to anticoagulant		10	94787706	94787707	Human
628532911	GWAS2441140_H	hemoglobin A1 measurement QTL GWAS2441140 (human)		2e-09	blood hemoglobin amount (VT:0001588)		10	94849429	94849430	Human
407082905	GWAS731881_H	migraine disorder QTL GWAS731881 (human)		0.000004	migraine disorder		10	94774506	94774507	Human
628758438	GWAS2666667_H	X-12544 measurement QTL GWAS2666667 (human)		8e-11	X-12544 measurement		10	94814942	94814943	Human
407272486	GWAS921462_H	platelet reactivity measurement, response to clopidogrel QTL GWAS921462 (human)		1e-33	platelet reactivity measurement, response to clopidogrel		10	94842641	94842642	Human
628850459	GWAS2758688_H	S-warfarin to R-warfarin ratio measurement QTL GWAS2758688 (human)		2e-17	S-warfarin to R-warfarin ratio measurement		10	94808278	94808279	Human
406913696	GWAS562672_H	4-allylphenol sulfate measurement QTL GWAS562672 (human)		6e-13	4-allylphenol sulfate measurement		10	94793996	94793997	Human
597336571	GWAS1432645_H	S-warfarin to R-warfarin ratio measurement QTL GWAS1432645 (human)		2e-17	S-warfarin to R-warfarin ratio measurement		10	94808278	94808279	Human
628442775	GWAS2351004_H	lymphocyte count QTL GWAS2351004 (human)		1e-15	lymphocyte quantity (VT:0000717)	blood lymphocyte count (CMO:0000031)	10	94764638	94764639	Human
597233535	GWAS1329609_H	appendicular lean mass QTL GWAS1329609 (human)		5e-33	appendicular lean mass		10	94831527	94831528	Human
597336572	GWAS1432646_H	S-warfarin to R-warfarin ratio measurement QTL GWAS1432646 (human)		5e-10	S-warfarin to R-warfarin ratio measurement		10	94773070	94773071	Human
628850460	GWAS2758689_H	S-warfarin to R-warfarin ratio measurement QTL GWAS2758689 (human)		5e-10	S-warfarin to R-warfarin ratio measurement		10	94773070	94773071	Human
407160490	GWAS809466_H	mean arterial pressure QTL GWAS809466 (human)		0.000001	mean arterial pressure		10	94804000	94804001	Human
597141497	GWAS1237571_H	androsterone sulfate measurement QTL GWAS1237571 (human)		2e-09	androsterone sulfate measurement		10	94827532	94827533	Human
628825611	GWAS2733840_H	bilirubin measurement QTL GWAS2733840 (human)		2e-13	blood bilirubin amount (VT:0001569)	serum total bilirubin level (CMO:0000376)	10	94812174	94812175	Human
407157808	GWAS806784_H	systolic blood pressure QTL GWAS806784 (human)		2e-09	systolic blood pressure		10	94827994	94827995	Human
407132082	GWAS781058_H	clopidogrel metabolite measurement QTL GWAS781058 (human)		3e-14	clopidogrel metabolite measurement		10	94839753	94839754	Human
406928950	GWAS577926_H	thymol sulfate measurement QTL GWAS577926 (human)		6e-17	thymol sulfate measurement		10	94802231	94802232	Human
628867842	GWAS2776071_H	androsterone sulfate measurement QTL GWAS2776071 (human)		2e-09	androsterone sulfate measurement		10	94827532	94827533	Human
407152958	GWAS801934_H	S-6-hydroxywarfarin to S-warfarin ratio measurement QTL GWAS801934 (human)		4e-08	S-6-hydroxywarfarin to S-warfarin ratio measurement		10	94829819	94829820	Human
407303356	GWAS952332_H	lymphocyte count QTL GWAS952332 (human)		1e-15	lymphocyte count		10	94764638	94764639	Human

Markers in Region

STS-L07093

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	96,612,678 - 96,612,815	UniSTS	GRCh37
Build 36	10	96,602,668 - 96,602,805	RGD	NCBI36
Celera	10	90,352,784 - 90,352,921	RGD
Cytogenetic Map	10	q24	UniSTS
HuRef	10	90,239,347 - 90,239,484	UniSTS
GeneMap99-GB4 RH Map	10	445.19	UniSTS
NCBI RH Map	10	1042.5	UniSTS

RH80282

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	96,612,664 - 96,612,782	UniSTS	GRCh37
Build 36	10	96,602,654 - 96,602,772	RGD	NCBI36
Celera	10	90,352,770 - 90,352,888	RGD
Cytogenetic Map	10	q24	UniSTS
HuRef	10	90,239,333 - 90,239,451	UniSTS
GeneMap99-GB4 RH Map	10	445.98	UniSTS

GDB:193845

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	96,522,492 - 96,522,629	UniSTS	GRCh37
GRCh37	10	96,698,469 - 96,698,605	UniSTS	GRCh37
Build 36	10	96,512,482 - 96,512,619	RGD	NCBI36
Celera	10	90,438,587 - 90,438,723	UniSTS
Celera	10	90,262,584 - 90,262,721	RGD
Cytogenetic Map	10	q24	UniSTS
HuRef	10	90,325,147 - 90,325,283	UniSTS

GDB:364118

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	96,541,498 - 96,541,665	UniSTS	GRCh37
Build 36	10	96,531,488 - 96,531,655	RGD	NCBI36
Celera	10	90,281,607 - 90,281,774	RGD
Cytogenetic Map	10	q24	UniSTS
HuRef	10	90,168,176 - 90,168,343	UniSTS

RH70868

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	96,612,675 - 96,612,897	UniSTS	GRCh37
Build 36	10	96,602,665 - 96,602,887	RGD	NCBI36
Celera	10	90,352,781 - 90,353,003	RGD
Cytogenetic Map	10	q24	UniSTS
HuRef	10	90,239,344 - 90,239,566	UniSTS
GeneMap99-GB4 RH Map	10	448.63	UniSTS
NCBI RH Map	10	1036.4	UniSTS

D10S2360

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	96,702,079 - 96,702,306	UniSTS	GRCh37
GRCh37	10	96,535,277 - 96,535,503	UniSTS	GRCh37
Build 36	10	96,525,267 - 96,525,493	RGD	NCBI36
Celera	10	90,442,197 - 90,442,424	UniSTS
Celera	10	90,275,373 - 90,275,599	RGD
Cytogenetic Map	10	q24	UniSTS
HuRef	10	90,161,940 - 90,162,166	UniSTS
HuRef	10	90,328,758 - 90,328,985	UniSTS
GeneMap99-G3 RH Map	10	4615.0	UniSTS

GDB:364113

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	10	q24	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
470	1339	1068	476	3010	766	1151	2	565	497	433	1528	2198	1721	3	1773	285	773	647	135

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_008384	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_000769	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB113829	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH011198	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL133513	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL583836	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY796203	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CB158473	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CB161988	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068268	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF459664	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF459665	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY823012	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY823013	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY823014	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY823015	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY946734	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	L31506	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	L31507	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	L32982	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	L32983	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M61854	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X65962	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000371321 ⟹ ENSP00000360372

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	94,762,681 - 94,855,547 (+)	Ensembl

Ensembl Acc Id:

ENST00000480405 ⟹ ENSP00000483847

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	94,762,681 - 94,776,450 (+)	Ensembl

Ensembl Acc Id:

ENST00000645461

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	94,773,837 - 94,853,164 (+)	Ensembl

Ensembl Acc Id:

ENST00000883430 ⟹ ENSP00000553489

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	94,762,662 - 94,856,280 (+)	Ensembl

Ensembl Acc Id:

ENST00000883431 ⟹ ENSP00000553490

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	94,762,681 - 94,856,282 (+)	Ensembl

Ensembl Acc Id:

ENST00000883432 ⟹ ENSP00000553491

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	94,762,662 - 94,855,556 (+)	Ensembl

Ensembl Acc Id:

ENST00000883433 ⟹ ENSP00000553492

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	94,762,662 - 94,855,553 (+)	Ensembl

Ensembl Acc Id:

ENST00000883434 ⟹ ENSP00000553493

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	94,762,681 - 94,853,585 (+)	Ensembl

Ensembl Acc Id:

ENST00000883435 ⟹ ENSP00000553494

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	94,762,681 - 94,853,136 (+)	Ensembl

Ensembl Acc Id:

ENST00000883436 ⟹ ENSP00000553495

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	94,762,662 - 94,853,078 (+)	Ensembl

Ensembl Acc Id:

ENST00000883437 ⟹ ENSP00000553496

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	94,762,681 - 94,853,078 (+)	Ensembl

RefSeq Acc Id:

NM_000769 ⟹ NP_000760

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	94,762,681 - 94,855,547 (+)	NCBI
GRCh37	10	96,522,463 - 96,612,671 (+)	ENTREZGENE
Build 36	10	96,512,453 - 96,602,661 (+)	NCBI Archive
HuRef	10	90,149,122 - 90,239,340 (+)	ENTREZGENE
CHM1_1	10	96,804,187 - 96,894,726 (+)	NCBI
T2T-CHM13v2.0	10	95,641,807 - 95,734,675 (+)	NCBI

Sequence:

show sequence

GTCTTAACAAGAGGAGAAGGCTTCAATGGATCCTTTTGTGGTCCTTGTGCTCTGTCTCTCATGT
TTGCTTCTCCTTTCAATCTGGAGACAGAGCTCTGGGAGAGGAAAACTCCCTCCTGGCCCCACTC
CTCTCCCAGTGATTGGAAATATCCTACAGATAGATATTAAGGATGTCAGCAAATCCTTAACCAA
TCTCTCAAAAATCTATGGCCCTGTGTTCACTCTGTATTTTGGCCTGGAACGCATGGTGGTGCTG
CATGGATATGAAGTGGTGAAGGAAGCCCTGATTGATCTTGGAGAGGAGTTTTCTGGAAGAGGCC
ATTTCCCACTGGCTGAAAGAGCTAACAGAGGATTTGGAATCGTTTTCAGCAATGGAAAGAGATG
GAAGGAGATCCGGCGTTTCTCCCTCATGACGCTGCGGAATTTTGGGATGGGGAAGAGGAGCATT
GAGGACCGTGTTCAAGAGGAAGCCCGCTGCCTTGTGGAGGAGTTGAGAAAAACCAAGGCTTCAC
CCTGTGATCCCACTTTCATCCTGGGCTGTGCTCCCTGCAATGTGATCTGCTCCATTATTTTCCA
GAAACGTTTCGATTATAAAGATCAGCAATTTCTTAACTTGATGGAAAAATTGAATGAAAACATC
AGGATTGTAAGCACCCCCTGGATCCAGATATGCAATAATTTTCCCACTATCATTGATTATTTCC
CGGGAACCCATAACAAATTACTTAAAAACCTTGCTTTTATGGAAAGTGATATTTTGGAGAAAGT
AAAAGAACACCAAGAATCGATGGACATCAACAACCCTCGGGACTTTATTGATTGCTTCCTGATC
AAAATGGAGAAGGAAAAGCAAAACCAACAGTCTGAATTCACTATTGAAAACTTGGTAATCACTG
CAGCTGACTTACTTGGAGCTGGGACAGAGACAACAAGCACAACCCTGAGATATGCTCTCCTTCT
CCTGCTGAAGCACCCAGAGGTCACAGCTAAAGTCCAGGAAGAGATTGAACGTGTCATTGGCAGA
AACCGGAGCCCCTGCATGCAGGACAGGGGCCACATGCCCTACACAGATGCTGTGGTGCACGAGG
TCCAGAGATACATCGACCTCATCCCCACCAGCCTGCCCCATGCAGTGACCTGTGACGTTAAATT
CAGAAACTACCTCATTCCCAAGGGCACAACCATATTAACTTCCCTCACTTCTGTGCTACATGAC
AACAAAGAATTTCCCAACCCAGAGATGTTTGACCCTCGTCACTTTCTGGATGAAGGTGGAAATT
TTAAGAAAAGTAACTACTTCATGCCTTTCTCAGCAGGAAAACGGATTTGTGTGGGAGAGGGCCT
GGCCCGCATGGAGCTGTTTTTATTCCTGACCTTCATTTTACAGAACTTTAACCTGAAATCTCTG
ATTGACCCAAAGGACCTTGACACAACTCCTGTTGTCAATGGATTTGCTTCTGTCCCGCCCTTCT
ATCAGCTGTGCTTCATTCCTGTCTGAAGAAGCACAGATGGTCTGGCTGCTCCTGTGCTGTCCCT
GCAGCTCTCTTTCCTCTGGTCCAAATTTCACTATCTGTGATGCTTCTTCTGACCCGTCATCTCA
CATTTTCCCTTCCCCCAAGATCTAGTGAACATTCAGCCTCCATTAAAAAAGTTTCACTGTGCAA
ATATATCTGCTATTCCCCATACTCTATAATAGTTACATTGAGTGCCACATAATGCTGATACTTG
TCTAATGTTGAGTTATTAACATATTATTATTAAATAGAGAAAGATGATTTGTGTATTATAATTC
AAAGGCATTTCTTCTCTGCATGTTCTAAACAAAAAGCATTATTATTTGCTGAGTCAGGTTATTA
GACCTTCCTTCCTTTGTGCATAATGCAGGTGACAAATTAAAGAAAATAGAGTTCCAGGAGGCCA
TGCTGGTTCTCAAAACGATAAGGACAGAAAGGACAAAGGTGAAGATGGTAGGGAAGCTATTTTG
GCTGAGCATTACCAAAATTTAGAGTTACATGAGGATTGGATTTGAAAGTGAGAAACTGTGTCCA
GGAGCAGCTCCAACCTCTAGGGAAATATTCAGAGGATCAGGTATTGGGAGGAATGGATATTAAA
TGTTCCACATTGGTGTTCCTTTTTTTTTTTTTTTTGAGACAATGTCTCACTCTGTCTCCCAGGC
TGGAGTGCAGTGGTGCAATCTCGGCTCACTGTAACCTTCGCCTCCCAGGCTCAAGAGATTCTCC
TGCCTCAGCCTCCTGAGTAGCTGGGATTACAGACACGTGCCACCATGCCTGGCTAATTTTTTTG
TATTTTTAGTACAGACAGGGTTTCACCATGTTAGCCAGGATGATCTCAATCTGCTGACCTCCTG
ATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGACACTGTGCCTGGTCTAA
TGTTACTTTAAAGTGTCATTACTTTATCTCTAAATAAAGAATCAGGTTACTTTTATTACTTCAT
GTTTCCAACTTAGAATGAAGTAATGAAGTATAAATATATGCTTTCATATTGCTGCTCATGTGTT
TTGTCATGCTTCTCTCTTCAAACATGAACAAAATTTCTTTTCTTTTTTCTTTTTTTTTTGAAAT
GGAGTCCCACTTTTGTTCCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAATCTCC
ACCTCCTGGATTCAAGTGGTTCTCCTGCCTCAGCCCCCCAAGTAGCTGGGATTACAGGTGCCTA
CCACCACACCAGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTGGGCCAGGCT
AGTCTTGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAACTGCTGGGCTTACAG
GCGTGAGCCACTGCACCTGGCTGAACAAAATTTCTAAGAAGAATTACCAGGGTTTAATCTTTTT
CAGCTTCTCCTATATTGTTTTAGTTTTAACATTAGTGGGATGATAATTTTATGCTATTGTCCTA
ATATAATTAGCCTCATGTCATCTCCAAAGCATAGACAACTAAGTATCTTATGTTAAATTATGTT
CACCACTCTTCCTGTCTTCTACTTGAAATGTAAGAAATAAGAAGTAACATAATTGATTATGCTT
TTCACAGCTCATCTCCTAGAACAAGCTACTTACAATTTGGAATACATTTAAAGATAATATATGG
GTACAGATGTACATGTACATCTATGCATGTGTGTGTACATTATGTGCATTCACACATAATATAT
ATATGTATAACTTATGCACACATACATATAGGGTTAAATGTTTATTTACAATATTGGGCTCATA
TCACACATCTTGTATTAAAACTTGCTATTTTCCTACCAAGTAATATGCCAGCAAAACCTCTAAG
GTGATAGAAACATAGGCAAATAATTCAGAGAGTTAATAGAAGAGAAAGTGGAAATGGGTATTAC
ATTAATGGAAAGATACAGATGGAAATTACACATTATACATTTTAAACATTCTTCATTGGGAAAT
GAAAATGTATTAATGTAGTGTTAGTAGAGGTGTTGACAAACACCCATGGGTGAGATAAATAAAA
AAGTTGTCTAGTCTGTTTCCTCCTGGAGACTGTAGTGGATAATCTGTTTTCCTGCCTATTTCAG
CTCCTAAAGGCTGCCTGCATTCCTTGGCTCATGAACTCCTTTTTCTTTCACTCCAAACACTTGC
TTCTTTTGTTACATCTCCTACTCCTACTACTCTTATTCTCTCTCCCTTATGTAAAGACCCTTGT
GATTACATGAAACCCACCAGTGTAATCTCTTCATGTCCAGACATTATTTAGCCTACCATACTAT
TATTATACCCATTTGAACAACCAAACAATTGCACTGATGATCTGTTAAGCATCTTGTTCAAGGT
CACACAGCTTTTTAAGTGTCAGAGCCAACAATTGGACAAGGGCAATCTGACTGGAAAGTAGAAG
TTGCTAACAACTTTGCTAATTCTCTGCATTTATTTTTATTGTTTGTATTTCTTCCCTAAAATAC
ATATTTCATATGAGAAGAGAACTTTATTTGGCTCACTAATGAATACCAGCCACCTGAAACACTG
TTTAGAAGATACTGGCTCAATAAATATTTAATGAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_000760	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB59426	(Get FASTA)	NCBI Sequence Viewer
	AAL31347	(Get FASTA)	NCBI Sequence Viewer
	AAL31348	(Get FASTA)	NCBI Sequence Viewer
	AAV41877	(Get FASTA)	NCBI Sequence Viewer
	ATN24103	(Get FASTA)	NCBI Sequence Viewer
	ATN24104	(Get FASTA)	NCBI Sequence Viewer
	ATN24105	(Get FASTA)	NCBI Sequence Viewer
	ATN24106	(Get FASTA)	NCBI Sequence Viewer
	ATN24153	(Get FASTA)	NCBI Sequence Viewer
	BAD02827	(Get FASTA)	NCBI Sequence Viewer
	CAA46778	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000360372
	ENSP00000360372.3
GenBank Protein	P33261	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_000760 ⟸ NM_000769

- UniProtKB:

Q8WZB2 (UniProtKB/Swiss-Prot), Q8WZB1 (UniProtKB/Swiss-Prot), P33259 (UniProtKB/Swiss-Prot), Q9UCD4 (UniProtKB/Swiss-Prot), P33261 (UniProtKB/Swiss-Prot), S5R8G8 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MDPFVVLVLCLSCLLLLSIWRQSSGRGKLPPGPTPLPVIGNILQIDIKDVSKSLTNLSKIYGPV
FTLYFGLERMVVLHGYEVVKEALIDLGEEFSGRGHFPLAERANRGFGIVFSNGKRWKEIRRFSL
MTLRNFGMGKRSIEDRVQEEARCLVEELRKTKASPCDPTFILGCAPCNVICSIIFQKRFDYKDQ
QFLNLMEKLNENIRIVSTPWIQICNNFPTIIDYFPGTHNKLLKNLAFMESDILEKVKEHQESMD
INNPRDFIDCFLIKMEKEKQNQQSEFTIENLVITAADLLGAGTETTSTTLRYALLLLLKHPEVT
AKVQEEIERVIGRNRSPCMQDRGHMPYTDAVVHEVQRYIDLIPTSLPHAVTCDVKFRNYLIPKG
TTILTSLTSVLHDNKEFPNPEMFDPRHFLDEGGNFKKSNYFMPFSAGKRICVGEGLARMELFLF
LTFILQNFNLKSLIDPKDLDTTPVVNGFASVPPFYQLCFIPV

hide sequence

Ensembl Acc Id:

ENSP00000360372 ⟸ ENST00000371321

Ensembl Acc Id:

ENSP00000483847 ⟸ ENST00000480405

Ensembl Acc Id:

ENSP00000553490 ⟸ ENST00000883431

Ensembl Acc Id:

ENSP00000553493 ⟸ ENST00000883434

Ensembl Acc Id:

ENSP00000553489 ⟸ ENST00000883430

Ensembl Acc Id:

ENSP00000553495 ⟸ ENST00000883436

Ensembl Acc Id:

ENSP00000553492 ⟸ ENST00000883433

Ensembl Acc Id:

ENSP00000553496 ⟸ ENST00000883437

Ensembl Acc Id:

ENSP00000553491 ⟸ ENST00000883432

Ensembl Acc Id:

ENSP00000553494 ⟸ ENST00000883435

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P33261-F1-model_v2	AlphaFold	P33261	1-490	view protein structure

Promoters

RGD ID:

7218231

Promoter ID:

EPDNEW_H14862

Type:

initiation region

Name:

CYP2C19_1

Description:

cytochrome P450 family 2 subfamily C member 19

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H14863 EPDNEW_H14864

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	94,762,681 - 94,762,741	EPDNEW

RGD ID:

7218235

Promoter ID:

EPDNEW_H14863

Type:

single initiation site

Name:

CYP2C19_3

Description:

cytochrome P450 family 2 subfamily C member 19

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H14862 EPDNEW_H14864

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	94,775,489 - 94,775,549	EPDNEW

RGD ID:

7218239

Promoter ID:

EPDNEW_H14864

Type:

multiple initiation site

Name:

CYP2C19_2

Description:

cytochrome P450 family 2 subfamily C member 19

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H14862 EPDNEW_H14863

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	94,842,926 - 94,842,986	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:2621	AgrOrtholog
COSMIC	CYP2C19	COSMIC
Ensembl Genes	ENSG00000165841	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000371321	ENTREZGENE
	ENST00000371321.9	UniProtKB/Swiss-Prot
Gene3D-CATH	1.10.630.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000165841	GTEx
HGNC ID	HGNC:2621	ENTREZGENE
Human Proteome Map	CYP2C19	Human Proteome Map
InterPro	Cyt_P450	UniProtKB/Swiss-Prot
	Cyt_P450_CS	UniProtKB/Swiss-Prot
	Cyt_P450_E_grp-I	UniProtKB/Swiss-Prot
	Cyt_P450_sf	UniProtKB/Swiss-Prot
	Cytochrome_P450_fam2	UniProtKB/Swiss-Prot
KEGG Report	hsa:1557	UniProtKB/Swiss-Prot
NCBI Gene	1557	ENTREZGENE
OMIM	124020	OMIM
PANTHER	CYTOCHROME P450 2C19	UniProtKB/Swiss-Prot
	CYTOCHROME P450 508A4-RELATED	UniProtKB/Swiss-Prot
Pfam	p450	UniProtKB/Swiss-Prot
PharmGKB	CYP2C19	RGD, PharmGKB
PRINTS	EP450I	UniProtKB/Swiss-Prot
	P450	UniProtKB/Swiss-Prot
PROSITE	CYTOCHROME_P450	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF48264	UniProtKB/Swiss-Prot
UniProt	A0A087X125_HUMAN	UniProtKB/TrEMBL
	A0A2D1BII0_HUMAN	UniProtKB/TrEMBL
	A0A2D1BPP2_HUMAN	UniProtKB/TrEMBL
	B0ZDM8_HUMAN	UniProtKB/TrEMBL
	CP2CJ_HUMAN	UniProtKB/Swiss-Prot
	P33259	ENTREZGENE
	P33261	ENTREZGENE
	Q767A3_HUMAN	UniProtKB/TrEMBL
	Q8WZB1	ENTREZGENE
	Q8WZB2	ENTREZGENE
	Q9UCD4	ENTREZGENE
	S5R8G8	ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary	P33259	UniProtKB/Swiss-Prot
	Q8WZB1	UniProtKB/Swiss-Prot
	Q8WZB2	UniProtKB/Swiss-Prot
	Q9UCD4	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-12-15	CYP2C19	cytochrome P450 family 2 subfamily C member 19	CYP2C19	cytochrome P450, family 2, subfamily C, polypeptide 19	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

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)

Manual Human Phenotype Annotations - RGD

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)

Manual Human Phenotype Annotations - RGD

Imported Human Phenotype Annotations - ClinVar