OGG1 (8-oxoguanine DNA glycosylase) - Rat Genome Database

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Gene: OGG1 (8-oxoguanine DNA glycosylase) Homo sapiens
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Symbol: OGG1
Name: 8-oxoguanine DNA glycosylase
RGD ID: 1353911
HGNC Page HGNC:8125
Description: Enables 8-oxo-7,8-dihydroguanine DNA N-glycosylase activity; DNA binding activity; and enzyme binding activity. Involved in cellular response to reactive oxygen species; positive regulation of macromolecule biosynthetic process; and response to radiation. Acts upstream of or within negative regulation of double-strand break repair via single-strand annealing and nucleotide-excision repair. Located in nuclear matrix and nuclear speck. Part of protein-containing complex. Implicated in several diseases, including Graves' disease; artery disease (multiple); carcinoma (multiple); eye disease (multiple); and reproductive organ cancer (multiple). Biomarker of several diseases, including angiomyolipoma; carcinoma (multiple); diabetes mellitus (multiple); pre-eclampsia; and progressive supranuclear palsy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 8-hydroxyguanine DNA glycosylase; AP lyase; DNA-apurinic or apyrimidinic site lyase; HMMH; HOGG1; MUTM; N-glycosylase/DNA lyase; OGG1 type 1f; OGH1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3839,749,952 - 9,783,108 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl39,749,944 - 9,788,219 (+)EnsemblGRCh38hg38GRCh38
GRCh3739,791,636 - 9,808,334 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3639,765,705 - 9,783,342 (+)NCBINCBI36Build 36hg18NCBI36
Build 3439,766,653 - 9,783,311NCBI
Celera39,726,330 - 9,743,054 (+)NCBICelera
Cytogenetic Map3p25.3NCBI
HuRef39,727,975 - 9,744,701 (+)NCBIHuRef
CHM1_139,741,823 - 9,758,548 (+)NCBICHM1_1
T2T-CHM13v2.039,741,907 - 9,758,605 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Acute Coronary Syndrome  (IAGP)
adenocarcinoma  (EXP)
allergic contact dermatitis  (ISO)
angiomyolipoma  (IAGP,IEP)
Atrioventricular Septal Defect 2  (IAGP)
basal cell carcinoma  (IAGP,IEP)
brain disease  (EXP)
breast cancer  (IAGP,IDA,IEP)
cataract  (IAGP)
cholangiocarcinoma  (IAGP)
Chromosome Aberrations  (EXP)
clear cell renal cell carcinoma  (IAGP)
coronary artery disease  (IAGP)
developmental coordination disorder  (EXP)
Discoid Lupus Erythematosus  (EXP)
Endometrial Neoplasms  (IAGP)
Experimental Diabetes Mellitus  (ISO)
Experimental Liver Cirrhosis  (ISO)
Gallbladder Neoplasms  (IAGP)
Genetic Predisposition to Disease  (EXP)
gestational diabetes  (IEP)
Graves' disease  (IAGP)
head and neck squamous cell carcinoma  (IAGP,IEP)
Hearing Loss, Noise-Induced  (EXP,IAGP)
heart disease  (EXP)
hepatitis  (ISO)
human immunodeficiency virus infectious disease  (EXP)
Huntington's disease  (EXP)
Hyperplasia  (EXP)
hypertension  (IAGP)
Kidney Reperfusion Injury  (ISO)
long QT syndrome  (IAGP)
lung adenocarcinoma  (EXP)
Lung Neoplasms  (EXP)
Lymphatic Metastasis  (IAGP)
lymphoma  (EXP)
male infertility  (EXP)
middle cerebral artery infarction  (ISO)
myoclonic-atonic epilepsy  (IAGP)
Nerve Degeneration  (EXP)
Neurodevelopmental Disorders  (IAGP)
nonpapillary renal cell carcinoma  (IAGP)
obesity  (EXP)
ovarian cancer  (IAGP)
pancreatic cancer  (IAGP)
Parkinson's disease  (IEP)
pre-eclampsia  (IEP)
Premature Birth  (EXP)
Prenatal Exposure Delayed Effects  (EXP)
Prenatal Injuries  (EXP)
primary open angle glaucoma  (IAGP)
progressive supranuclear palsy  (IEP)
prostate cancer  (IAGP)
Prostatic Neoplasms  (EXP)
pterygium  (IAGP)
pulmonary fibrosis  (EXP)
renal cell carcinoma  (EXP,IAGP,ISO)
sarcoma  (ISO)
senile cataract  (IAGP)
skin disease  (EXP)
squamous cell carcinoma  (ISO)
status epilepticus  (ISO)
Tongue Neoplasms  (IEP)
toxic shock syndrome  (ISO)
transient cerebral ischemia  (ISO)
transitional cell carcinoma  (IAGP)
type 2 diabetes mellitus  (EXP,IEP)
Urologic Neoplasms  (EXP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-dexrazoxane  (ISO)
(+)-pilocarpine  (ISO)
(S)-nicotine  (EXP)
1,1'-azobis(N,N-dimethylformamide)  (EXP)
1,2-dimethylhydrazine  (ISO)
1,4-benzoquinone  (ISO)
17beta-estradiol  (EXP,ISO)
1H-pyrazole  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-diamino-5-formamido-4-hydroxypyrimidine  (ISO)
2-aminobiphenyl  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP)
5-aza-2'-deoxycytidine  (EXP)
5-azacytidine  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (EXP)
7,8-dihydro-8-oxoguanine  (EXP,ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (ISO)
8-hydroxy-2'-deoxyguanosine  (EXP)
acrolein  (EXP,ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
alpha-hexachlorocyclohexane  (ISO)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
aniline  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
aurintricarboxylic acid  (EXP)
belinostat  (ISO)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
beryllium dichloride  (ISO)
bezafibrate  (ISO)
biphenyl-4-amine  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
bleomycin A2  (ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
camphene  (ISO)
carbon atom  (ISO)
carmustine  (EXP)
CGP 52608  (EXP)
chlorpyrifos  (EXP)
chromium atom  (EXP)
chromium(6+)  (EXP)
cisplatin  (EXP)
cobalt dichloride  (EXP)
crocidolite asbestos  (EXP,ISO)
curcumin  (EXP)
cyclophosphamide  (ISO)
DDT  (ISO)
deoxynivalenol  (EXP)
dexamethasone  (EXP)
Diacetoxyscirpenol  (ISO)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dicyclanil  (ISO)
diethyl maleate  (ISO)
dimethylarsinic acid  (ISO)
dioxygen  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental carbon  (ISO)
elemental selenium  (EXP)
entinostat  (EXP)
ethanol  (EXP,ISO)
etoposide  (ISO)
flutamide  (ISO)
folic acid  (EXP)
furan  (ISO)
geraniol  (ISO)
glutathione  (ISO)
glycine betaine  (ISO)
glyphosate  (EXP)
gold atom  (EXP)
gold(0)  (EXP)
hydralazine  (EXP)
hydrazine  (ISO)
hydrazines  (EXP)
hydrogen peroxide  (EXP)
idarubicin  (ISO)
imidacloprid  (ISO)
indometacin  (EXP)
L-ascorbic acid  (EXP)
lead(0)  (EXP,ISO)
lithium atom  (ISO)
lithium hydride  (ISO)
lupeol  (EXP)
mancozeb  (EXP)
manganese atom  (ISO)
manganese(0)  (ISO)
melatonin  (EXP,ISO)
menadione  (EXP)
mercury atom  (ISO)
mercury(0)  (ISO)
metformin  (EXP)
methamphetamine  (ISO)
methyl methanesulfonate  (EXP)
methyl tert-butyl ether  (ISO)
methylarsonic acid  (ISO)
miconazole  (ISO)
mitomycin C  (ISO)
monocrotophos  (EXP)
myristicin  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (EXP)
nickel atom  (ISO)
nicotine  (EXP)
nimesulide  (ISO)
O-methyleugenol  (ISO)
ochratoxin A  (ISO)
oxaliplatin  (ISO)
oxirane  (EXP,ISO)
ozone  (EXP)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
parathion-methyl  (ISO)
phenobarbital  (ISO)
pioglitazone  (ISO)
piperonyl butoxide  (ISO)
pirfenidone  (ISO)
potassium bromate  (EXP,ISO)
potassium dichromate  (EXP)
pristane  (ISO)
procyanidin B1  (ISO)
quartz  (EXP)
quercetin  (EXP)
reactive oxygen species  (EXP,ISO)
resveratrol  (EXP,ISO)
rosmarinic acid  (ISO)
S-adenosyl-L-homocysteine  (ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
SB 431542  (EXP)
SCH 23390  (ISO)
selenium atom  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (EXP,ISO)
Soman  (ISO)
sterigmatocystin  (ISO)
styrene  (EXP)
tamibarotene  (EXP)
tert-butyl ethyl ether  (ISO)
tetrachloromethane  (ISO)
Thiotepa  (EXP)
Thymidine glycol  (EXP)
titanium dioxide  (EXP,ISO)
topotecan  (ISO)
tributylstannane  (ISO)
trimethylarsine oxide  (ISO)
valproic acid  (EXP)
vincristine  (EXP)
vorinostat  (ISO)
wogonin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (TAS)
mitochondrial matrix  (TAS)
mitochondrion  (HTP,IEA)
nuclear matrix  (IDA,IEA)
nuclear speck  (IDA,IEA)
nucleoplasm  (IDA,IEA,TAS)
nucleus  (IBA,IDA,IEA)
protein-containing complex  (IDA)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Alterations of the DNA repair gene OGG1 in human clear cell carcinomas of the kidney. Audebert M, etal., Cancer Res. 2000 Sep 1;60(17):4740-4.
2. Two functional variations in 5'-UTR of hoGG1 gene associated with the risk of breast cancer in Chinese. Chen X, etal., Breast Cancer Res Treat. 2011 Jun;127(3):795-803. doi: 10.1007/s10549-010-1284-2. Epub 2010 Dec 14.
3. Evidence of alterations in base excision repair of oxidative DNA damage during spontaneous hepatocarcinogenesis in Long Evans Cinnamon rats. Choudhury S, etal., Cancer Res. 2003 Nov 15;63(22):7704-7.
4. DNA repair gene variants in endometrial carcinoma. Cincin ZB, etal., Med Oncol. 2012 Dec;29(4):2949-54. doi: 10.1007/s12032-012-0162-7. Epub 2012 Jan 22.
5. Zhonghua bing li xue za zhi Chinese journal of pathology Cong W, etal., Zhonghua Bing Li Xue Za Zhi. 2001 Jun;30(3):183-7.
6. Multiple genetic alterations involved in the tumorigenesis of human cholangiocarcinoma: a molecular genetic and clinicopathological study. Cong WM, etal., J Cancer Res Clin Oncol. 2001;127(3):187-92.
7. DNA repair gene polymorphisms and prostate cancer risk in South Australia--results of a pilot study. Dhillon VS, etal., Urol Oncol. 2011 Nov-Dec;29(6):641-6. doi: 10.1016/j.urolonc.2009.08.013. Epub 2009 Nov 13.
8. Detecting pathway-based gene-gene and gene-environment interactions in pancreatic cancer. Duell EJ, etal., Cancer Epidemiol Biomarkers Prev. 2008 Jun;17(6):1470-9.
9. Integrated analysis of high-resolution DNA methylation profiles, gene expression, germline genotypes and clinical end points in breast cancer patients. Fleischer T, etal., Int J Cancer. 2014 Jun 1;134(11):2615-25. doi: 10.1002/ijc.28606. Epub 2014 Jan 6.
10. Expression of 8-oxoguanine DNA glycosylase (OGG1) in Parkinson's disease and related neurodegenerative disorders. Fukae J, etal., Acta Neuropathol. 2005 Mar;109(3):256-62. Epub 2004 Nov 17.
11. Polymorphisms of DNA repair genes OGG1 and XPD and the risk of age-related cataract in Egyptians. Gharib AF, etal., Mol Vis. 2014 May 21;20:661-9. eCollection 2014.
12. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
13. Association between genetic variants of DNA repair genes and coronary artery disease. Gokkusu C, etal., Genet Test Mol Biomarkers. 2013 Apr;17(4):307-13. doi: 10.1089/gtmb.2012.0383. Epub 2013 Jan 31.
14. Insight into mechanism of oxidative DNA damage in angiomyolipomas from TSC patients. Habib SL Mol Cancer. 2009 Mar 5;8:13. doi: 10.1186/1476-4598-8-13.
15. Genetic polymorphisms in OGG1 and their association with angiomyolipoma, a benign kidney tumor in patients with tuberous sclerosis. Habib SL, etal., Cancer Biol Ther. 2008 Jan;7(1):23-7. Epub 2007 Oct 8.
16. Tuberin haploinsufficiency is associated with the loss of OGG1 in rat kidney tumors. Habib SL, etal., Mol Cancer. 2008 Jan 24;7:10.
17. Ebselen attenuates oxidative DNA damage and enhances its repair activity in the thalamus after focal cortical infarction in hypertensive rats. He M, etal., Brain Res. 2007 Nov 21;1181:83-92. Epub 2007 Sep 8.
18. Human 8-oxoguanine-DNA glycosylase-1 is downregulated in human basal cell carcinoma. Huang XX, etal., Mol Genet Metab. 2012 May;106(1):127-30. doi: 10.1016/j.ymgme.2012.02.017. Epub 2012 Mar 3.
19. Genetic polymorphisms in the base excision repair pathway and cancer risk: a HuGE review. Hung RJ, etal., Am J Epidemiol. 2005 Nov 15;162(10):925-42. Epub 2005 Oct 12.
20. Branched-chain amino acid-enriched nutrients stimulate antioxidant DNA repair in a rat model of liver injury induced by carbon tetrachloride. Ichikawa K, etal., Mol Biol Rep. 2012 Dec;39(12):10803-10. doi: 10.1007/s11033-012-1974-4. Epub 2012 Oct 9.
21. Mitochondrial DNA damage and impaired base excision repair during epileptogenesis. Jarrett SG, etal., Neurobiol Dis. 2008 Apr;30(1):130-8. Epub 2008 Jan 5.
22. Do genetic defects of DNA repair relevant proteins alter susceptibility to hypertension? A case-control study in northeastern Han Chinese. Jia N, etal., Clin Chim Acta. 2015 Feb 20;441:171-5. doi: 10.1016/j.cca.2014.12.017. Epub 2014 Dec 18.
23. Genetic polymorphism of hOGG1 and risk of pterygium in Chinese. Kau HC, etal., Eye (Lond). 2004 Jun;18(6):635-9.
24. Impact of genetic polymorphisms in base excision repair genes on the risk of breast cancer in a Korean population. Kim KY, etal., Gene. 2013 Dec 15;532(2):192-6. doi: 10.1016/j.gene.2013.09.069. Epub 2013 Sep 25.
25. Immunolocalization of 8-OHdG and OGG1 in pancreatic islets of streptozotocin-induced diabetic rats. Ku YP, etal., Acta Histochem. 2009;111(2):138-44. Epub 2008 Aug 3.
26. Reduced expression of DNA repair genes (XRCC1, XPD, and OGG1) in squamous cell carcinoma of head and neck in North India. Kumar A, etal., Tumour Biol. 2012 Feb;33(1):111-9. doi: 10.1007/s13277-011-0253-7. Epub 2011 Nov 15.
27. 8-Oxoguanine formation induced by chronic UVB exposure makes Ogg1 knockout mice susceptible to skin carcinogenesis. Kunisada M, etal., Cancer Res. 2005 Jul 15;65(14):6006-10.
28. Inducible repair of oxidative DNA lesions in the rat brain after transient focal ischemia and reperfusion. Lan J, etal., J Cereb Blood Flow Metab. 2003 Nov;23(11):1324-39.
29. Effects of base excision repair gene polymorphisms on pancreatic cancer survival. Li D, etal., Int J Cancer. 2007 Apr 15;120(8):1748-54.
30. Oxidative DNA damage and 8-hydroxy-2-deoxyguanosine DNA glycosylase/apurinic lyase in human breast cancer. Li D, etal., Mol Carcinog. 2001 Aug;31(4):214-23.
31. Single nucleotide polymorphisms of DNA base-excision repair genes (APE1, OGG1 and XRCC1) associated with breast cancer risk in a Chinese population. Luo H, etal., Asian Pac J Cancer Prev. 2014;15(3):1133-40.
32. Potential role for 8-oxoguanine DNA glycosylase in regulating inflammation. Mabley JG, etal., FASEB J. 2005 Feb;19(2):290-2. Epub 2004 Dec 1.
33. Synergistic effects of polymorphisms in DNA repair genes and endogenous estrogen exposure on female breast cancer risk. Ming-Shiean H, etal., Ann Surg Oncol. 2010 Mar;17(3):760-71.
34. Protective association exhibited by the single nucleotide polymorphism (SNP) rs1052133 in the gene human 8-oxoguanine DNA glycosylase (hOGG1) with the risk of squamous cell carcinomas of the head & neck (SCCHN) among north Indians. Mitra AK, etal., Indian J Med Res. 2011 Jun;133:605-12.
35. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
36. DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers. Osorio A, etal., PLoS Genet. 2014 Apr 3;10(4):e1004256. doi: 10.1371/journal.pgen.1004256. eCollection 2014 Apr.
37. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
38. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
39. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
40. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
41. OGG1 polymorphisms and breast cancer risk. Rossner P Jr, etal., Cancer Epidemiol Biomarkers Prev. 2006 Apr;15(4):811-5.
42. A functional Ser326Cys polymorphism in hOGG1 is associated with noise-induced hearing loss in a Chinese population. Shen H, etal., PLoS One. 2014 Mar 5;9(3):e89662. doi: 10.1371/journal.pone.0089662. eCollection 2014.
43. Salivary analysis of oral cancer biomarkers. Shpitzer T, etal., Br J Cancer. 2009 Oct 6;101(7):1194-8. doi: 10.1038/sj.bjc.6605290.
44. Mechanism of oxidative DNA damage in diabetes: tuberin inactivation and downregulation of DNA repair enzyme 8-oxo-7,8-dihydro-2'-deoxyguanosine-DNA glycosylase. Simone S, etal., Diabetes. 2008 Oct;57(10):2626-36. doi: 10.2337/db07-1579. Epub 2008 Jul 3.
45. Polymorphisms of DNA repair genes in endometrial cancer. Sobczuk A, etal., Pathol Oncol Res. 2012 Oct;18(4):1015-20. Epub 2012 Apr 28.
46. Single-nucleotide polymorphisms of DNA repair genes OGG1 and XRCC1: association with gallbladder cancer in North Indian population. Srivastava A, etal., Ann Surg Oncol. 2009 Jun;16(6):1695-703. Epub 2009 Mar 6.
47. Polymorphisms in ERCC2, MSH2, and OGG1 DNA repair genes and gallbladder cancer risk in a population of Northern India. Srivastava K, etal., Cancer. 2010 Jul 1;116(13):3160-9. doi: 10.1002/cncr.25063.
48. Association between DNA damage, DNA repair genes variability and clinical characteristics in breast cancer patients. Synowiec E, etal., Mutat Res. 2008 Dec 15;648(1-2):65-72. doi: 10.1016/j.mrfmmm.2008.09.014. Epub 2008 Oct 10.
49. Association of the 399Arg/Gln XRCC1, the 194 Arg/Trp XRCC1, the 326Ser/Cys OGG1, and the 324Gln/His MUTYH gene polymorphisms with clinical parameters and the risk for development of primary open-angle glaucoma. Szaflik JP, etal., Mutat Res. 2013 Apr 30;753(1):12-22. doi: 10.1016/j.mrgentox.2012.12.019. Epub 2013 Mar 7.
50. The 8-oxoguanine DNA N-glycosylase 1 (hOGG1) Ser326Cys variant affects the susceptibility to Graves' disease. Tanrikulu S, etal., Cell Biochem Funct. 2011 Apr;29(3):244-8. doi: 10.1002/cbf.1742. Epub 2011 Feb 24.
51. Accumulation of 8-oxoguanine in the cellular DNA and the alteration of the OGG1 expression during ischemia-reperfusion injury in the rat kidney. Tsuruya K, etal., DNA Repair (Amst). 2003 Feb 3;2(2):211-29.
52. Islet expression of the DNA repair enzyme 8-oxoguanosine DNA glycosylase (Ogg1) in human type 2 diabetes. Tyrberg B, etal., BMC Endocr Disord. 2002 Apr 25;2(1):2.
53. Disrupted placental vitamin D metabolism and calcium signaling in gestational diabetes and pre-eclampsia patients. Varshney S, etal., Endocrine. 2023 Apr;80(1):191-200. doi: 10.1007/s12020-022-03272-9. Epub 2022 Dec 8.
54. No association between OGG1 Ser326Cys and risk of basal cell carcinoma. Vogel U, etal., Cancer Epidemiol Biomarkers Prev. 2004 Oct;13(10):1680-1.
55. Association of hOGG1 and XPD polymorphisms with urothelial carcinoma in Taiwan. Wang YH, etal., Anticancer Res. 2011 Nov;31(11):3939-44.
56. Genetic polymorphisms in base-excision repair pathway genes and risk of breast cancer. Zhang Y, etal., Cancer Epidemiol Biomarkers Prev. 2006 Feb;15(2):353-8.
57. Genetic polymorphisms in DNA repair genes OGG1, APE1, XRCC1, and XPD and the risk of age-related cataract. Zhang Y, etal., Ophthalmology. 2012 May;119(5):900-6. doi: 10.1016/j.ophtha.2011.11.004. Epub 2012 Feb 4.
58. Susceptibility of XPD and hOGG1 genetic variants to prostate cancer. Zhou C, etal., Biomed Rep. 2013 Jul;1(4):679-683. Epub 2013 May 30.
Additional References at PubMed
PMID:8621488   PMID:9187114   PMID:9190902   PMID:9197244   PMID:9207108   PMID:9223305   PMID:9223306   PMID:9321410   PMID:9348312   PMID:9662341   PMID:9681819   PMID:9765618  
PMID:10233168   PMID:10449904   PMID:10497264   PMID:10583946   PMID:10706276   PMID:10717238   PMID:10775435   PMID:10908322   PMID:11110971   PMID:11307145   PMID:11448535   PMID:11675410  
PMID:11719088   PMID:11827746   PMID:11837743   PMID:11902834   PMID:11927502   PMID:11956079   PMID:11977425   PMID:11992556   PMID:12034821   PMID:12117782   PMID:12119232   PMID:12151358  
PMID:12163326   PMID:12164325   PMID:12164330   PMID:12189194   PMID:12244119   PMID:12477932   PMID:12509224   PMID:12578369   PMID:12582029   PMID:12592398   PMID:12612057   PMID:12644468  
PMID:12717837   PMID:12718576   PMID:12754413   PMID:12779082   PMID:12807753   PMID:12841596   PMID:12883749   PMID:12899941   PMID:12933815   PMID:14578150   PMID:14634453   PMID:14634838  
PMID:14663360   PMID:14688259   PMID:14706345   PMID:14752045   PMID:15077011   PMID:15184269   PMID:15231648   PMID:15284179   PMID:15350146   PMID:15449173   PMID:15491645   PMID:15494448  
PMID:15518571   PMID:15587988   PMID:15596047   PMID:15610848   PMID:15654505   PMID:15661661   PMID:15667866   PMID:15737490   PMID:15760895   PMID:15781210   PMID:15800211   PMID:15800616  
PMID:15811855   PMID:15834708   PMID:15856018   PMID:15870915   PMID:15887293   PMID:15896461   PMID:15929986   PMID:15931596   PMID:15942030   PMID:15946795   PMID:15971256   PMID:15979229  
PMID:15990020   PMID:15990162   PMID:16024742   PMID:16052235   PMID:16111924   PMID:16169070   PMID:16195237   PMID:16211227   PMID:16293709   PMID:16333523   PMID:16341674   PMID:16366378  
PMID:16381036   PMID:16478987   PMID:16538639   PMID:16543247   PMID:16549874   PMID:16564556   PMID:16567524   PMID:16569655   PMID:16585517   PMID:16597659   PMID:16600130   PMID:16609022  
PMID:16615267   PMID:16800823   PMID:16843501   PMID:16872898   PMID:16923968   PMID:16949154   PMID:16982113   PMID:16997330   PMID:17015267   PMID:17015827   PMID:17018150   PMID:17028303  
PMID:17040931   PMID:17057786   PMID:17085873   PMID:17090545   PMID:17114185   PMID:17126083   PMID:17127715   PMID:17148573   PMID:17149600   PMID:17177211   PMID:17203305   PMID:17207022  
PMID:17207658   PMID:17209434   PMID:17214369   PMID:17220334   PMID:17240059   PMID:17252231   PMID:17313735   PMID:17353931   PMID:17374727   PMID:17389610   PMID:17399686   PMID:17417778  
PMID:17417784   PMID:17426120   PMID:17457458   PMID:17531381   PMID:17531525   PMID:17536801   PMID:17651912   PMID:17827862   PMID:17922186   PMID:17951408   PMID:17971348   PMID:17984110  
PMID:17989114   PMID:17991492   PMID:18006925   PMID:18029348   PMID:18059482   PMID:18086781   PMID:18091433   PMID:18154319   PMID:18155253   PMID:18204928   PMID:18222119   PMID:18246124  
PMID:18270339   PMID:18272472   PMID:18279607   PMID:18312439   PMID:18349297   PMID:18366059   PMID:18384956   PMID:18393249   PMID:18406515   PMID:18477212   PMID:18478337   PMID:18505345  
PMID:18515411   PMID:18544627   PMID:18569589   PMID:18585103   PMID:18628426   PMID:18641208   PMID:18641418   PMID:18672023   PMID:18672903   PMID:18676680   PMID:18713157   PMID:18776649  
PMID:18823566   PMID:18825991   PMID:18848840   PMID:18936436   PMID:18990748   PMID:18992148   PMID:18992806   PMID:19012493   PMID:19029194   PMID:19064361   PMID:19116388   PMID:19147782  
PMID:19147860   PMID:19161591   PMID:19170196   PMID:19176223   PMID:19223501   PMID:19237606   PMID:19339270   PMID:19350226   PMID:19351836   PMID:19391486   PMID:19393248   PMID:19399402  
PMID:19408654   PMID:19414392   PMID:19423521   PMID:19428376   PMID:19486888   PMID:19493423   PMID:19506022   PMID:19514640   PMID:19524665   PMID:19536092   PMID:19561388   PMID:19563869  
PMID:19615952   PMID:19625176   PMID:19630534   PMID:19643912   PMID:19671832   PMID:19692168   PMID:19789190   PMID:19815090   PMID:19826048   PMID:19857538   PMID:19881468   PMID:19885394  
PMID:19902366   PMID:19913121   PMID:19914697   PMID:19959686   PMID:19962393   PMID:19963114   PMID:19966524   PMID:20023702   PMID:20054639   PMID:20056743   PMID:20058067   PMID:20069464  
PMID:20100872   PMID:20127182   PMID:20137386   PMID:20140625   PMID:20150366   PMID:20192583   PMID:20193742   PMID:20209647   PMID:20226869   PMID:20231640   PMID:20304505   PMID:20306073  
PMID:20360068   PMID:20364408   PMID:20368715   PMID:20378691   PMID:20391347   PMID:20453000   PMID:20459474   PMID:20496165   PMID:20512606   PMID:20522537   PMID:20530453   PMID:20534734  
PMID:20547950   PMID:20559012   PMID:20562008   PMID:20571908   PMID:20574454   PMID:20577654   PMID:20593951   PMID:20602259   PMID:20606456   PMID:20628086   PMID:20634891   PMID:20644561  
PMID:20649433   PMID:20667409   PMID:20718982   PMID:20723587   PMID:20731661   PMID:20817763   PMID:20819778   PMID:20843780   PMID:20845517   PMID:20846459   PMID:20850372   PMID:20877624  
PMID:20884250   PMID:20971211   PMID:20981350   PMID:21036733   PMID:21036742   PMID:21037106   PMID:21113933   PMID:21166493   PMID:21183201   PMID:21184188   PMID:21220122   PMID:21253737  
PMID:21338203   PMID:21343179   PMID:21355073   PMID:21356311   PMID:21376741   PMID:21390502   PMID:21401806   PMID:21426660   PMID:21426661   PMID:21515665   PMID:21520294   PMID:21561390  
PMID:21568844   PMID:21623257   PMID:21640155   PMID:21695387   PMID:21722819   PMID:21727036   PMID:21790253   PMID:21822670   PMID:21845541   PMID:21866464   PMID:21873502   PMID:21873635  
PMID:21899442   PMID:21908221   PMID:21914193   PMID:21974800   PMID:21986195   PMID:21997177   PMID:22019439   PMID:22057269   PMID:22084859   PMID:22108520   PMID:22114677   PMID:22121210  
PMID:22156293   PMID:22175854   PMID:22193621   PMID:22279581   PMID:22279661   PMID:22294108   PMID:22296498   PMID:22302830   PMID:22320944   PMID:22320992   PMID:22343785   PMID:22451681  
PMID:22463382   PMID:22469746   PMID:22471492   PMID:22511791   PMID:22526153   PMID:22540013   PMID:22565339   PMID:22568941   PMID:22652274   PMID:22659345   PMID:22692827   PMID:22798271  
PMID:22799296   PMID:22829015   PMID:22855704   PMID:22857644   PMID:22890093   PMID:22901126   PMID:22941157   PMID:22989268   PMID:22989888   PMID:22993322   PMID:23038158   PMID:23055259  
PMID:23065211   PMID:23079842   PMID:23081862   PMID:23186590   PMID:23322570   PMID:23332971   PMID:23368532   PMID:23369609   PMID:23376476   PMID:23378024   PMID:23396182   PMID:23400936  
PMID:23443115   PMID:23454624   PMID:23464476   PMID:23552977   PMID:23577090   PMID:23607987   PMID:23618615   PMID:23677377   PMID:23684897   PMID:23697596   PMID:23700156   PMID:23726996  
PMID:23748360   PMID:23762419   PMID:23806019   PMID:23830927   PMID:23868064   PMID:23909557   PMID:23954288   PMID:23955443   PMID:23959014   PMID:23971971   PMID:23975367   PMID:24032711  
PMID:24049014   PMID:24053728   PMID:24085357   PMID:24175791   PMID:24186001   PMID:24297334   PMID:24345202   PMID:24402573   PMID:24429287   PMID:24435978   PMID:24451144   PMID:24489103  
PMID:24589083   PMID:24892639   PMID:24893568   PMID:24911554   PMID:24911585   PMID:24935623   PMID:24998955   PMID:25016526   PMID:25089939   PMID:25127756   PMID:25154311   PMID:25196052  
PMID:25222230   PMID:25227662   PMID:25250913   PMID:25310012   PMID:25323581   PMID:25335960   PMID:25463392   PMID:25496161   PMID:25526641   PMID:25534136   PMID:25588927   PMID:25671815  
PMID:25694431   PMID:25712093   PMID:25731027   PMID:25733688   PMID:25907663   PMID:26018802   PMID:26074017   PMID:26089588   PMID:26124010   PMID:26261212   PMID:26337123   PMID:26359225  
PMID:26400813   PMID:26496208   PMID:26562193   PMID:26586787   PMID:26592168   PMID:26600527   PMID:26692147   PMID:26811994   PMID:26884880   PMID:26936466   PMID:26980051   PMID:27011006  
PMID:27015555   PMID:27022219   PMID:27084675   PMID:27251462   PMID:27316582   PMID:27343030   PMID:27364693   PMID:27372710   PMID:27393451   PMID:27460091   PMID:27538622   PMID:27571472  
PMID:27603140   PMID:27756845   PMID:27822728   PMID:28034960   PMID:28039450   PMID:28129013   PMID:28253266   PMID:28334993   PMID:28345889   PMID:28396513   PMID:28415729   PMID:28415770  
PMID:28448977   PMID:28486105   PMID:28514442   PMID:28586012   PMID:28608470   PMID:28631182   PMID:28643198   PMID:28892740   PMID:28992182   PMID:29121049   PMID:29139108   PMID:29209987  
PMID:29227732   PMID:29257843   PMID:29305130   PMID:29306194   PMID:29320630   PMID:29341606   PMID:29361033   PMID:29582449   PMID:29626765   PMID:29669111   PMID:29709520   PMID:29720094  
PMID:29737460   PMID:29765508   PMID:29773766   PMID:29900613   PMID:29937070   PMID:29940424   PMID:30043545   PMID:30158039   PMID:30194171   PMID:30207305   PMID:30264500   PMID:30429230  
PMID:30442351   PMID:30648893   PMID:30703296   PMID:30777129   PMID:30807913   PMID:30912416   PMID:31117610   PMID:31117842   PMID:31177174   PMID:31280195   PMID:31299287   PMID:31329989  
PMID:31504229   PMID:31898659   PMID:31923624   PMID:32004920   PMID:32093595   PMID:32167073   PMID:32192442   PMID:32257438   PMID:32324932   PMID:32378256   PMID:32432680   PMID:32513696  
PMID:32519309   PMID:32522350   PMID:32577993   PMID:32643432   PMID:32710616   PMID:32741713   PMID:32808374   PMID:32998246   PMID:33000245   PMID:33025423   PMID:33129239   PMID:33171795  
PMID:33210702   PMID:33211885   PMID:33282879   PMID:33361155   PMID:33372419   PMID:33450252   PMID:33498912   PMID:33836581   PMID:33961781   PMID:34770874   PMID:34800366   PMID:35181726  
PMID:35190564   PMID:35628513   PMID:35723423   PMID:35770680   PMID:35883652   PMID:36156093   PMID:36178927   PMID:36310366   PMID:36472850   PMID:36528059   PMID:36579980   PMID:36620083  
PMID:36982562   PMID:37011700   PMID:37021552   PMID:37433992   PMID:37778730   PMID:37991642   PMID:38236479   PMID:38237481   PMID:38334141   PMID:38363604   PMID:38554113   PMID:39119702  
PMID:39341999   PMID:39413143   PMID:39477986  


Genomics

Comparative Map Data
OGG1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3839,749,952 - 9,783,108 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl39,749,944 - 9,788,219 (+)EnsemblGRCh38hg38GRCh38
GRCh3739,791,636 - 9,808,334 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3639,765,705 - 9,783,342 (+)NCBINCBI36Build 36hg18NCBI36
Build 3439,766,653 - 9,783,311NCBI
Celera39,726,330 - 9,743,054 (+)NCBICelera
Cytogenetic Map3p25.3NCBI
HuRef39,727,975 - 9,744,701 (+)NCBIHuRef
CHM1_139,741,823 - 9,758,548 (+)NCBICHM1_1
T2T-CHM13v2.039,741,907 - 9,758,605 (+)NCBIT2T-CHM13v2.0
Ogg1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396113,303,959 - 113,311,149 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6113,303,933 - 113,312,029 (+)EnsemblGRCm39 Ensembl
GRCm386113,326,972 - 113,334,877 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6113,326,972 - 113,335,068 (+)EnsemblGRCm38mm10GRCm38
MGSCv376113,276,970 - 113,284,182 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366113,292,788 - 113,299,961 (+)NCBIMGSCv36mm8
Celera6115,153,980 - 115,161,188 (+)NCBICelera
Cytogenetic Map6E3NCBI
cM Map652.75NCBI
Ogg1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84148,030,237 - 148,037,599 (+)NCBIGRCr8
mRatBN7.24146,474,701 - 146,481,959 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4146,474,750 - 146,484,766 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4151,859,153 - 151,865,412 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04147,639,996 - 147,646,255 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04146,261,532 - 146,267,801 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04145,282,828 - 145,289,367 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4145,282,797 - 145,289,326 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04208,580,193 - 208,586,457 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44149,209,745 - 149,219,081 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14149,454,585 - 149,463,922 (+)NCBI
Celera4135,032,266 - 135,038,520 (+)NCBICelera
Cytogenetic Map4q42NCBI
Ogg1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555611,277,365 - 1,282,793 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555611,277,362 - 1,282,949 (+)NCBIChiLan1.0ChiLan1.0
OGG1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v229,761,821 - 9,801,743 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan139,766,593 - 9,806,794 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v039,702,311 - 9,742,283 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.139,940,955 - 9,972,658 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl39,940,955 - 9,947,335 (+)Ensemblpanpan1.1panPan2
OGG1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1208,486,150 - 8,491,448 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl208,480,005 - 8,491,264 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha208,519,224 - 8,524,513 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0208,515,436 - 8,520,730 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl208,515,437 - 8,520,524 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1208,237,911 - 8,243,202 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0208,582,435 - 8,587,727 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0208,556,049 - 8,561,340 (-)NCBIUU_Cfam_GSD_1.0
Ogg1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494215,490,887 - 15,501,164 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366023,413,282 - 3,418,831 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366023,411,106 - 3,418,826 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OGG1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11366,038,669 - 66,045,478 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21373,102,660 - 73,108,902 (-)NCBISscrofa10.2Sscrofa10.2susScr3
OGG1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12245,757,414 - 45,763,690 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666041120,772,448 - 120,811,082 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ogg1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247314,383,434 - 4,388,196 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247314,383,000 - 4,388,486 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in OGG1
48 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002542.6(OGG1):c.137G>A (p.Arg46Gln) single nucleotide variant Clear cell carcinoma of kidney [RCV000008040]|not provided [RCV001579581] Chr3:9750423 [GRCh38]
Chr3:9792107 [GRCh37]
Chr3:3p25.3		 pathogenic|uncertain significance|other
GRCh38/hg38 3p25.3-25.2(chr3:8581778-12015238)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051480]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051480]|See cases [RCV000051480] Chr3:8581778..12015238 [GRCh38]
Chr3:8623464..12056738 [GRCh37]
Chr3:8598464..12031738 [NCBI36]
Chr3:3p25.3-25.2		 pathogenic
GRCh38/hg38 3p25.3(chr3:9393349-9956171)x1 copy number loss See cases [RCV000051481] Chr3:9393349..9956171 [GRCh38]
Chr3:9435033..9997855 [GRCh37]
Chr3:9410033..9972855 [NCBI36]
Chr3:3p25.3		 pathogenic
GRCh38/hg38 3p25.3(chr3:9654297-10228687)x1 copy number loss See cases [RCV000051482] Chr3:9654297..10228687 [GRCh38]
Chr3:9695981..10270371 [GRCh37]
Chr3:9670981..10245371 [NCBI36]
Chr3:3p25.3		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1 copy number loss See cases [RCV000051447] Chr3:52266..11089569 [GRCh38]
Chr3:93949..11131255 [GRCh37]
Chr3:68949..11106255 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 copy number gain See cases [RCV000051097] Chr3:52266..37148076 [GRCh38]
Chr3:93949..37189567 [GRCh37]
Chr3:68949..37164571 [NCBI36]
Chr3:3p26.3-22.2		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:52066-20280127)x3 copy number gain See cases [RCV000051690] Chr3:52066..20280127 [GRCh38]
Chr3:93749..20321619 [GRCh37]
Chr3:68749..20296623 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:52266-29248782)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|See cases [RCV000051718] Chr3:52266..29248782 [GRCh38]
Chr3:93949..29290273 [GRCh37]
Chr3:68949..29265277 [NCBI36]
Chr3:3p26.3-24.1		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3 copy number gain See cases [RCV000051719] Chr3:63843..19510600 [GRCh38]
Chr3:105526..19552092 [GRCh37]
Chr3:80526..19527096 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p25.3(chr3:9624696-10039318)x1 copy number loss See cases [RCV000133641] Chr3:9624696..10039318 [GRCh38]
Chr3:9666380..10081002 [GRCh37]
Chr3:9641380..10056002 [NCBI36]
Chr3:3p25.3		 uncertain significance
NM_003656.5(CAMK1):c.946A>G (p.Met316Val) single nucleotide variant not specified [RCV004267980] Chr3:9757813 [GRCh38]
Chr3:9799497 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_003656.5(CAMK1):c.683A>C (p.Glu228Ala) single nucleotide variant not specified [RCV004274882] Chr3:9760718 [GRCh38]
Chr3:9802402 [GRCh37]
Chr3:3p25.3		 uncertain significance
GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4 copy number gain See cases [RCV000135641] Chr3:8038727..11240931 [GRCh38]
Chr3:8080414..11282617 [GRCh37]
Chr3:8055414..11257617 [NCBI36]
Chr3:3p26.1-25.3		 likely pathogenic
GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1 copy number loss See cases [RCV000137433] Chr3:9394874..11690612 [GRCh38]
Chr3:9436558..11732086 [GRCh37]
Chr3:9411558..11707086 [NCBI36]
Chr3:3p25.3-25.2		 pathogenic
GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3 copy number gain See cases [RCV000137309] Chr3:7975734..12636917 [GRCh38]
Chr3:8017421..12678416 [GRCh37]
Chr3:7992421..12653416 [NCBI36]
Chr3:3p26.1-25.2		 likely pathogenic
GRCh38/hg38 3p25.3(chr3:8812036-9953438)x3 copy number gain See cases [RCV000137329] Chr3:8812036..9953438 [GRCh38]
Chr3:8853722..9995122 [GRCh37]
Chr3:8828722..9970122 [NCBI36]
Chr3:3p25.3		 uncertain significance
GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1 copy number loss See cases [RCV000138143] Chr3:32241..12681483 [GRCh38]
Chr3:73914..12722982 [GRCh37]
Chr3:48914..12697982 [NCBI36]
Chr3:3p26.3-25.2		 pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3 copy number gain See cases [RCV000138004] Chr3:32241..30064208 [GRCh38]
Chr3:73914..30105699 [GRCh37]
Chr3:48914..30080703 [NCBI36]
Chr3:3p26.3-24.1		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3 copy number gain See cases [RCV000137941] Chr3:32241..20334387 [GRCh38]
Chr3:73914..20375879 [GRCh37]
Chr3:48914..20350883 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1 copy number loss See cases [RCV000138376] Chr3:32241..11379835 [GRCh38]
Chr3:73914..11421309 [GRCh37]
Chr3:48914..11396309 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic|likely benign
GRCh38/hg38 3p25.3(chr3:8941623-10151752)x3 copy number gain See cases [RCV000138535] Chr3:8941623..10151752 [GRCh38]
Chr3:8983307..10193436 [GRCh37]
Chr3:8958307..10168436 [NCBI36]
Chr3:3p25.3		 likely benign|uncertain significance
GRCh38/hg38 3p25.3(chr3:9142303-9793982)x3 copy number gain See cases [RCV000139348] Chr3:9142303..9793982 [GRCh38]
Chr3:9183987..9835666 [GRCh37]
Chr3:9158987..9810666 [NCBI36]
Chr3:3p25.3		 uncertain significance
GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3 copy number gain See cases [RCV000138946] Chr3:32241..13613818 [GRCh38]
Chr3:73914..13655318 [GRCh37]
Chr3:48914..13630319 [NCBI36]
Chr3:3p26.3-25.1		 pathogenic
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 copy number gain See cases [RCV000141810] Chr3:53308..41381521 [GRCh38]
Chr3:94991..41423012 [GRCh37]
Chr3:69991..41398016 [NCBI36]
Chr3:3p26.3-22.1		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1 copy number loss See cases [RCV000141731] Chr3:20213..11221602 [GRCh38]
Chr3:61891..11263288 [GRCh37]
Chr3:36891..11238288 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1 copy number loss See cases [RCV000143325] Chr3:32241..10323124 [GRCh38]
Chr3:73914..10364808 [GRCh37]
Chr3:48914..10339808 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1 copy number loss See cases [RCV000143173] Chr3:32241..10631310 [GRCh38]
Chr3:73914..10672995 [GRCh37]
Chr3:48914..10647995 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3 copy number gain See cases [RCV000143766] Chr3:7356110..14360442 [GRCh38]
Chr3:7397797..14401942 [GRCh37]
Chr3:7372797..14376946 [NCBI36]
Chr3:3p26.1-25.1		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1 copy number loss See cases [RCV000143706] Chr3:688897..11051142 [GRCh38]
Chr3:730581..11092828 [GRCh37]
Chr3:705581..11067828 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh37/hg19 3p25.3(chr3:9405337-10168892)x3 copy number gain See cases [RCV000240180] Chr3:9405337..10168892 [GRCh37]
Chr3:3p25.3		 likely pathogenic
GRCh37/hg19 3p25.3-25.2(chr3:8922160-12338637)x1 copy number loss See cases [RCV000240139] Chr3:8922160..12338637 [GRCh37]
Chr3:3p25.3-25.2		 pathogenic
NM_016821.3(OGG1):c.1043G>A (p.Gly348Glu) single nucleotide variant Nonpapillary renal cell carcinoma [RCV000625393] Chr3:9765903 [GRCh38]
Chr3:9807587 [GRCh37]
Chr3:3p25.3		 likely benign|uncertain significance
GRCh37/hg19 3p25.3(chr3:9666380-10028247)x1 copy number loss See cases [RCV000446848] Chr3:9666380..10028247 [GRCh37]
Chr3:3p25.3		 pathogenic
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)x3 copy number gain See cases [RCV000447247] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2		 pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)x3 copy number gain See cases [RCV000448528] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
GRCh37/hg19 3p26.1-25.3(chr3:6842555-10153209)x1 copy number loss See cases [RCV000448839] Chr3:6842555..10153209 [GRCh37]
Chr3:3p26.1-25.3		 pathogenic
GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3 copy number gain See cases [RCV000510429] Chr3:61891..33958201 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3 copy number gain See cases [RCV000511463] Chr3:61891..37459464 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
GRCh37/hg19 3p26.3-25.2(chr3:61891-12575409)x1 copy number loss See cases [RCV000511155] Chr3:61891..12575409 [GRCh37]
Chr3:3p26.3-25.2		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_002542.6(OGG1):c.799G>T (p.Val267Leu) single nucleotide variant not specified [RCV004302942] Chr3:9756522 [GRCh38]
Chr3:9798206 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_002542.6(OGG1):c.196C>G (p.Leu66Val) single nucleotide variant not specified [RCV004310770] Chr3:9751003 [GRCh38]
Chr3:9792687 [GRCh37]
Chr3:3p25.3		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p25.3(chr3:9600759-10000398)x3 copy number gain See cases [RCV000512318] Chr3:9600759..10000398 [GRCh37]
Chr3:3p25.3		 likely benign
GRCh37/hg19 3p26.3-25.3(chr3:61891-10104842)x1 copy number loss not provided [RCV000682180] Chr3:61891..10104842 [GRCh37]
Chr3:3p26.3-25.3		 pathogenic
GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3 copy number gain not provided [RCV000682215] Chr3:1897972..19519085 [GRCh37]
Chr3:3p26.3-24.3		 pathogenic
GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3 copy number gain not provided [RCV000682233] Chr3:5173870..16760262 [GRCh37]
Chr3:3p26.1-24.3		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p25.3(chr3:9547959-9898582)x1 copy number loss not provided [RCV000742227] Chr3:9547959..9898582 [GRCh37]
Chr3:3p25.3		 benign
Single allele duplication Neurodevelopmental disorder [RCV000787461] Chr3:9453917..12015126 [GRCh37]
Chr3:3p25.3-25.2		 uncertain significance
GRCh37/hg19 3p25.3(chr3:8883205-9954034)x3 copy number gain not provided [RCV000848799] Chr3:8883205..9954034 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_002542.6(OGG1):c.949-5T>C single nucleotide variant OGG1-related disorder [RCV003957982]|not provided [RCV000892818] Chr3:9757056 [GRCh38]
Chr3:9798740 [GRCh37]
Chr3:3p25.3		 benign|likely benign
NM_002542.6(OGG1):c.948+7G>A single nucleotide variant not provided [RCV000918448] Chr3:9756823 [GRCh38]
Chr3:9798507 [GRCh37]
Chr3:3p25.3		 likely benign
GRCh37/hg19 3p26.3-25.3(chr3:61891-10287825)x1 copy number loss not provided [RCV001007530] Chr3:61891..10287825 [GRCh37]
Chr3:3p26.3-25.3		 pathogenic
NC_000003.12:g.(?_9701780)_(9944589_?)dup duplication Atrioventricular septal defect, susceptibility to, 2 [RCV001031368] Chr3:9743464..9986273 [GRCh37]
Chr3:3p25.3		 uncertain significance
GRCh37/hg19 3p25.3(chr3:9501646-9991928)x4 copy number gain not provided [RCV001795849] Chr3:9501646..9991928 [GRCh37]
Chr3:3p25.3		 uncertain significance
GRCh37/hg19 3p26.1-25.3(chr3:6842555-10153209) copy number loss not specified [RCV002053327] Chr3:6842555..10153209 [GRCh37]
Chr3:3p26.1-25.3		 pathogenic
GRCh37/hg19 3p25.3(chr3:9754611-10295828) copy number gain not specified [RCV002053329] Chr3:9754611..10295828 [GRCh37]
Chr3:3p25.3		 uncertain significance
GRCh37/hg19 3p26.3-25.3(chr3:61891-9797094) copy number loss not specified [RCV002053298] Chr3:61891..9797094 [GRCh37]
Chr3:3p26.3-25.3		 pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181) copy number gain not specified [RCV002053300] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821) copy number gain not specified [RCV002053299] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2		 pathogenic
NC_000003.11:g.(?_8775563)_(9986075_?)dup duplication Long QT syndrome [RCV001923348] Chr3:8775563..9986075 [GRCh37]
Chr3:3p25.3		 uncertain significance
NC_000003.11:g.(?_7782024)_(11078652_?)dup duplication Atrioventricular septal defect, susceptibility to, 2 [RCV001875165] Chr3:7782024..11078652 [GRCh37]
Chr3:3p26.1-25.3		 uncertain significance
GRCh37/hg19 3p25.3(chr3:9754612-10295828)x3 copy number gain not provided [RCV002472444] Chr3:9754612..10295828 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_006354.5(TADA3):c.1130G>A (p.Arg377Gln) single nucleotide variant not specified [RCV004282605] Chr3:9780526 [GRCh38]
Chr3:9822210 [GRCh37]
Chr3:3p25.3		 uncertain significance
GRCh37/hg19 3p26.3-25.3(chr3:60931-10687964)x3 copy number gain not provided [RCV002468435] Chr3:60931..10687964 [GRCh37]
Chr3:3p26.3-25.3		 pathogenic
GRCh37/hg19 3p26.3-25.3(chr3:61892-9899605)x1 copy number loss not provided [RCV002472571] Chr3:61892..9899605 [GRCh37]
Chr3:3p26.3-25.3		 pathogenic
GRCh37/hg19 3p26.3-25.3(chr3:61892-11679509)x1 copy number loss not provided [RCV002473616] Chr3:61892..11679509 [GRCh37]
Chr3:3p26.3-25.3		 pathogenic
NM_003656.5(CAMK1):c.25A>G (p.Arg9Gly) single nucleotide variant not specified [RCV004156951] Chr3:9767725 [GRCh38]
Chr3:9809409 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_002542.6(OGG1):c.331C>T (p.His111Tyr) single nucleotide variant not specified [RCV004205292] Chr3:9751138 [GRCh38]
Chr3:9792822 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_002542.6(OGG1):c.1001C>T (p.Ala334Val) single nucleotide variant not specified [RCV004080874] Chr3:9757113 [GRCh38]
Chr3:9798797 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_003656.5(CAMK1):c.1034C>T (p.Pro345Leu) single nucleotide variant not specified [RCV004235113] Chr3:9757618 [GRCh38]
Chr3:9799302 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_002542.6(OGG1):c.529A>T (p.Thr177Ser) single nucleotide variant not specified [RCV004227076] Chr3:9751913 [GRCh38]
Chr3:9793597 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_002542.6(OGG1):c.293A>G (p.Lys98Arg) single nucleotide variant not specified [RCV004100832] Chr3:9751100 [GRCh38]
Chr3:9792784 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_003656.5(CAMK1):c.1073C>T (p.Pro358Leu) single nucleotide variant not specified [RCV004077529] Chr3:9757579 [GRCh38]
Chr3:9799263 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_016821.3(OGG1):c.1198G>A (p.Ala400Thr) single nucleotide variant not specified [RCV004109063] Chr3:9766058 [GRCh38]
Chr3:9807742 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_003656.5(CAMK1):c.356G>C (p.Ser119Thr) single nucleotide variant not specified [RCV004158130] Chr3:9762987 [GRCh38]
Chr3:9804671 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_003656.5(CAMK1):c.564A>C (p.Glu188Asp) single nucleotide variant not specified [RCV004226390] Chr3:9761529 [GRCh38]
Chr3:9803213 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_002542.6(OGG1):c.128A>T (p.Gln43Leu) single nucleotide variant not specified [RCV004072474] Chr3:9750414 [GRCh38]
Chr3:9792098 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_002542.6(OGG1):c.328T>C (p.Tyr110His) single nucleotide variant not specified [RCV004149135] Chr3:9751135 [GRCh38]
Chr3:9792819 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_006354.5(TADA3):c.1157T>A (p.Met386Lys) single nucleotide variant not specified [RCV004147611] Chr3:9780499 [GRCh38]
Chr3:9822183 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_002542.6(OGG1):c.1006C>T (p.Arg336Cys) single nucleotide variant not specified [RCV004232777] Chr3:9757118 [GRCh38]
Chr3:9798802 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_002542.6(OGG1):c.983A>G (p.His328Arg) single nucleotide variant not specified [RCV004170809] Chr3:9757095 [GRCh38]
Chr3:9798779 [GRCh37]
Chr3:3p25.3		 likely benign
NM_003656.5(CAMK1):c.794T>C (p.Phe265Ser) single nucleotide variant not specified [RCV004087801] Chr3:9759702 [GRCh38]
Chr3:9801386 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_003656.5(CAMK1):c.245A>G (p.Asp82Gly) single nucleotide variant not specified [RCV004196418] Chr3:9763184 [GRCh38]
Chr3:9804868 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_002542.6(OGG1):c.352T>C (p.Ser118Pro) single nucleotide variant not specified [RCV004196333] Chr3:9751159 [GRCh38]
Chr3:9792843 [GRCh37]
Chr3:3p25.3		 likely benign
NM_003656.5(CAMK1):c.992C>T (p.Thr331Met) single nucleotide variant not specified [RCV004187736] Chr3:9757767 [GRCh38]
Chr3:9799451 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_002542.6(OGG1):c.130T>C (p.Ser44Pro) single nucleotide variant not specified [RCV004282706] Chr3:9750416 [GRCh38]
Chr3:9792100 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_002542.6(OGG1):c.406G>A (p.Asp136Asn) single nucleotide variant not specified [RCV004260584] Chr3:9751790 [GRCh38]
Chr3:9793474 [GRCh37]
Chr3:3p25.3		 uncertain significance
GRCh37/hg19 3p26.2-25.3(chr3:3691505-9917651)x1 copy number loss 3p- syndrome [RCV003330127] Chr3:3691505..9917651 [GRCh37]
Chr3:3p26.2-25.3		 pathogenic
NM_003656.5(CAMK1):c.256G>A (p.Glu86Lys) single nucleotide variant not specified [RCV004365518] Chr3:9763173 [GRCh38]
Chr3:9804857 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_003656.5(CAMK1):c.451A>G (p.Ser151Gly) single nucleotide variant not specified [RCV004363472] Chr3:9761736 [GRCh38]
Chr3:9803420 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_002542.6(OGG1):c.578A>G (p.Glu193Gly) single nucleotide variant not specified [RCV004338193] Chr3:9754716 [GRCh38]
Chr3:9796400 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_003656.5(CAMK1):c.417C>G (p.His139Gln) single nucleotide variant not specified [RCV004360435] Chr3:9762926 [GRCh38]
Chr3:9804610 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_003656.5(CAMK1):c.234T>C (p.Ile78=) single nucleotide variant not provided [RCV003433408] Chr3:9763195 [GRCh38]
Chr3:9804879 [GRCh37]
Chr3:3p25.3		 likely benign
NM_002542.6(OGG1):c.401G>T (p.Arg134Leu) single nucleotide variant not specified [RCV004335420] Chr3:9751785 [GRCh38]
Chr3:9793469 [GRCh37]
Chr3:3p25.3		 uncertain significance
GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3 copy number gain not provided [RCV003484107] Chr3:310747..28297447 [GRCh37]
Chr3:3p26.3-24.1		 pathogenic
GRCh37/hg19 3p25.3(chr3:9655252-10332544)x3 copy number gain not provided [RCV003484118] Chr3:9655252..10332544 [GRCh37]
Chr3:3p25.3		 uncertain significance
Single allele deletion not provided [RCV003448703] Chr3:61435..9944653 [GRCh37]
Chr3:3p26.3-25.3		 pathogenic
NM_016827.3(OGG1):c.*48G>A single nucleotide variant not provided [RCV003433409] Chr3:9765879 [GRCh38]
Chr3:9807563 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_002542.6(OGG1):c.923G>A (p.Gly308Glu) single nucleotide variant OGG1-related disorder [RCV003908938]|not provided [RCV003433407] Chr3:9756791 [GRCh38]
Chr3:9798475 [GRCh37]
Chr3:3p25.3		 likely benign
NM_002542.6(OGG1):c.446A>G (p.Asn149Ser) single nucleotide variant not provided [RCV003488176] Chr3:9751830 [GRCh38]
Chr3:9793514 [GRCh37]
Chr3:3p25.3		 uncertain significance
GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3 copy number gain not specified [RCV003986437] Chr3:61891..33946644 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
GRCh37/hg19 3p26.1-25.3(chr3:6306331-11468530)x1 copy number loss not specified [RCV003986402] Chr3:6306331..11468530 [GRCh37]
Chr3:3p26.1-25.3		 pathogenic
NM_002542.6(OGG1):c.174A>T (p.Val58=) single nucleotide variant OGG1-related disorder [RCV003971653] Chr3:9750981 [GRCh38]
Chr3:9792665 [GRCh37]
Chr3:3p25.3		 likely benign
NM_002542.6(OGG1):c.984T>C (p.His328=) single nucleotide variant OGG1-related disorder [RCV003974253] Chr3:9757096 [GRCh38]
Chr3:9798780 [GRCh37]
Chr3:3p25.3		 likely benign
NM_016821.3(OGG1):c.1075C>T (p.Leu359Phe) single nucleotide variant OGG1-related disorder [RCV003961658] Chr3:9765935 [GRCh38]
Chr3:9807619 [GRCh37]
Chr3:3p25.3		 likely benign
NM_002542.6(OGG1):c.977C>G (p.Ser326Cys) single nucleotide variant OGG1-related disorder [RCV003974441] Chr3:9757089 [GRCh38]
Chr3:9798773 [GRCh37]
Chr3:3p25.3		 benign
NM_002542.6(OGG1):c.646C>A (p.Leu216Met) single nucleotide variant not specified [RCV004499043] Chr3:9754784 [GRCh38]
Chr3:9796468 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_003656.5(CAMK1):c.274T>C (p.Tyr92His) single nucleotide variant not specified [RCV004434618] Chr3:9763155 [GRCh38]
Chr3:9804839 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_003656.5(CAMK1):c.116A>G (p.Asp39Gly) single nucleotide variant not specified [RCV004434617] Chr3:9765858 [GRCh38]
Chr3:9807542 [GRCh37]
Chr3:3p25.3		 uncertain significance
GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3 copy number gain not provided [RCV004577500] Chr3:60000..34461438 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
NM_002542.6(OGG1):c.911G>A (p.Arg304Gln) single nucleotide variant not specified [RCV004499044] Chr3:9756779 [GRCh38]
Chr3:9798463 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_003656.5(CAMK1):c.827T>C (p.Ile276Thr) single nucleotide variant not specified [RCV004434619] Chr3:9759573 [GRCh38]
Chr3:9801257 [GRCh37]
Chr3:3p25.3		 uncertain significance
NC_000003.11:g.(?_9703931)_(11078652_?)del deletion Myoclonic-atonic epilepsy [RCV004582222] Chr3:9703931..11078652 [GRCh37]
Chr3:3p25.3		 pathogenic
NC_000003.11:g.(?_9470623)_(11078652_?)dup duplication not provided [RCV004582249] Chr3:9470623..11078652 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_002542.6(OGG1):c.205A>G (p.Thr69Ala) single nucleotide variant not specified [RCV004655129] Chr3:9751012 [GRCh38]
Chr3:9792696 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_003656.5(CAMK1):c.56T>A (p.Ile19Asn) single nucleotide variant not specified [RCV004600624] Chr3:9767694 [GRCh38]
Chr3:9809378 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_003656.5(CAMK1):c.418C>T (p.Arg140Trp) single nucleotide variant not specified [RCV004600623] Chr3:9762925 [GRCh38]
Chr3:9804609 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_003656.5(CAMK1):c.861C>G (p.His287Gln) single nucleotide variant not specified [RCV004600625] Chr3:9759539 [GRCh38]
Chr3:9801223 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_002542.6(OGG1):c.748-9C>T single nucleotide variant OGG1-related disorder [RCV004758535] Chr3:9756462 [GRCh38]
Chr3:9798146 [GRCh37]
Chr3:3p25.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4994
Count of miRNA genes:1008
Interacting mature miRNAs:1260
Transcripts:ENST00000302003, ENST00000302008, ENST00000302036, ENST00000339511, ENST00000344629, ENST00000349503, ENST00000352937, ENST00000383825, ENST00000383826, ENST00000416333, ENST00000425665, ENST00000426518, ENST00000429146, ENST00000432857, ENST00000436092, ENST00000441094, ENST00000449570, ENST00000602976
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406898041GWAS547017_Hopioid dependence QTL GWAS547017 (human)0.000009opioid dependence397533219753322Human
2316345GLUCO224_HGlucose level QTL 224 (human)1.270.008Glucose level3121543441Human

Markers in Region
RH78923  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3739,799,116 - 9,799,288UniSTSGRCh37
Build 3639,774,116 - 9,774,288RGDNCBI36
Celera39,733,818 - 9,733,990RGD
Cytogenetic Map3p26.2UniSTS
Cytogenetic Map3p25.3UniSTS
HuRef39,735,463 - 9,735,635UniSTS
GeneMap99-GB4 RH Map344.69UniSTS
SHGC-79567  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3739,800,919 - 9,801,198UniSTSGRCh37
Build 3639,775,919 - 9,776,198RGDNCBI36
Celera39,735,621 - 9,735,900RGD
Cytogenetic Map3p26.2UniSTS
Cytogenetic Map3p25.3UniSTS
HuRef39,737,266 - 9,737,545UniSTS
TNG Radiation Hybrid Map36260.0UniSTS
G67288  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3739,796,346 - 9,796,641UniSTSGRCh37
Build 3639,771,346 - 9,771,641RGDNCBI36
Celera39,731,048 - 9,731,343RGD
Cytogenetic Map3p26.2UniSTS
HuRef39,732,693 - 9,732,988UniSTS
G67289  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3739,798,656 - 9,798,904UniSTSGRCh37
Build 3639,773,656 - 9,773,904RGDNCBI36
Celera39,733,358 - 9,733,606RGD
Cytogenetic Map3p26.2UniSTS
Cytogenetic Map3p25.3UniSTS
HuRef39,735,003 - 9,735,251UniSTS
csnpogg1-pcr5-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3739,798,084 - 9,798,353UniSTSGRCh37
Build 3639,773,084 - 9,773,353RGDNCBI36
Celera39,732,786 - 9,733,055RGD
Cytogenetic Map3p26.2UniSTS
HuRef39,734,431 - 9,734,700UniSTS
SHGC-76689  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3739,798,824 - 9,798,984UniSTSGRCh37
Build 3639,773,824 - 9,773,984RGDNCBI36
Celera39,733,526 - 9,733,686RGD
Cytogenetic Map3p26.2UniSTS
Cytogenetic Map3p25.3UniSTS
HuRef39,735,171 - 9,735,331UniSTS
TNG Radiation Hybrid Map36260.0UniSTS
GeneMap99-GB4 RH Map345.2UniSTS
SHGC-76687  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3739,803,478 - 9,803,699UniSTSGRCh37
Build 3639,778,478 - 9,778,699RGDNCBI36
Celera39,738,180 - 9,738,401RGD
Cytogenetic Map3p26.2UniSTS
Cytogenetic Map3p25.3UniSTS
HuRef39,739,825 - 9,740,046UniSTS
TNG Radiation Hybrid Map36260.0UniSTS
GeneMap99-GB4 RH Map344.69UniSTS


Expression

RNA-SEQ Expression

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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 6 624 1951 465 2269 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001434445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001434446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001434447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001434448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001434449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001434450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB000410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB019528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB019529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB019530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB019531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB019532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB037878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB037879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB037880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB037881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB037882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF003595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF026691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF088282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF521807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ131341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW614399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM847736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U88527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U88620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U96710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y11731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y11838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y13277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000302003   ⟹   ENSP00000305584
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl39,749,944 - 9,757,407 (+)Ensembl
Ensembl Acc Id: ENST00000302008   ⟹   ENSP00000305527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl39,750,073 - 9,766,737 (+)Ensembl
Ensembl Acc Id: ENST00000302036   ⟹   ENSP00000306561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl39,749,952 - 9,766,650 (+)Ensembl
Ensembl Acc Id: ENST00000339511   ⟹   ENSP00000345520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl39,749,981 - 9,757,377 (+)Ensembl
Ensembl Acc Id: ENST00000344629   ⟹   ENSP00000342851
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl39,749,952 - 9,757,407 (+)Ensembl
Ensembl Acc Id: ENST00000349503   ⟹   ENSP00000303132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl39,749,944 - 9,766,668 (+)Ensembl
Ensembl Acc Id: ENST00000352937   ⟹   ENSP00000344899
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl39,750,039 - 9,766,737 (+)Ensembl
Ensembl Acc Id: ENST00000383825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl39,751,903 - 9,757,191 (+)Ensembl
Ensembl Acc Id: ENST00000383826   ⟹   ENSP00000373337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl39,750,087 - 9,766,112 (+)Ensembl
Ensembl Acc Id: ENST00000416333   ⟹   ENSP00000402713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl39,751,903 - 9,757,191 (+)Ensembl
Ensembl Acc Id: ENST00000425665   ⟹   ENSP00000396034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl39,750,083 - 9,757,204 (+)Ensembl
Ensembl Acc Id: ENST00000426518   ⟹   ENSP00000399810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl39,751,079 - 9,788,219 (+)Ensembl
Ensembl Acc Id: ENST00000429146   ⟹   ENSP00000393726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl39,750,355 - 9,756,865 (+)Ensembl
Ensembl Acc Id: ENST00000432857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl39,750,964 - 9,752,094 (+)Ensembl
Ensembl Acc Id: ENST00000436092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl39,750,018 - 9,751,072 (+)Ensembl
Ensembl Acc Id: ENST00000441094   ⟹   ENSP00000390337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl39,750,346 - 9,757,035 (+)Ensembl
Ensembl Acc Id: ENST00000449570   ⟹   ENSP00000403598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl39,750,072 - 9,766,540 (+)Ensembl
Ensembl Acc Id: ENST00000602976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl39,757,348 - 9,762,324 (+)Ensembl
Ensembl Acc Id: ENST00000707074   ⟹   ENSP00000516725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl39,750,132 - 9,766,436 (+)Ensembl
RefSeq Acc Id: NM_001354648   ⟹   NP_001341577
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3839,749,952 - 9,757,407 (+)NCBI
T2T-CHM13v2.039,741,907 - 9,749,363 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354649   ⟹   NP_001341578
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3839,749,952 - 9,757,407 (+)NCBI
T2T-CHM13v2.039,741,907 - 9,749,363 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354650   ⟹   NP_001341579
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3839,749,952 - 9,766,650 (+)NCBI
T2T-CHM13v2.039,741,907 - 9,758,605 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354651   ⟹   NP_001341580
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3839,749,952 - 9,766,650 (+)NCBI
T2T-CHM13v2.039,741,907 - 9,758,605 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354652   ⟹   NP_001341581
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3839,749,952 - 9,766,650 (+)NCBI
T2T-CHM13v2.039,741,907 - 9,758,605 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002542   ⟹   NP_002533
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3839,749,952 - 9,757,407 (+)NCBI
GRCh3739,791,628 - 9,829,468 (+)NCBI
Build 3639,765,705 - 9,774,087 (+)NCBI Archive
HuRef39,727,975 - 9,744,701 (+)ENTREZGENE
CHM1_139,741,823 - 9,749,286 (+)NCBI
T2T-CHM13v2.039,741,907 - 9,749,363 (+)NCBI
Sequence:
RefSeq Acc Id: NM_016819   ⟹   NP_058212
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3839,749,952 - 9,757,407 (+)NCBI
GRCh3739,791,628 - 9,829,468 (+)NCBI
Build 3639,765,705 - 9,774,087 (+)NCBI Archive
HuRef39,727,975 - 9,744,701 (+)ENTREZGENE
CHM1_139,741,823 - 9,749,286 (+)NCBI
T2T-CHM13v2.039,741,907 - 9,749,363 (+)NCBI
Sequence:
RefSeq Acc Id: NM_016820   ⟹   NP_058213
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3839,749,952 - 9,757,407 (+)NCBI
GRCh3739,791,628 - 9,829,468 (+)NCBI
Build 3639,765,705 - 9,774,087 (+)NCBI Archive
HuRef39,727,975 - 9,744,701 (+)ENTREZGENE
CHM1_139,741,823 - 9,749,286 (+)NCBI
T2T-CHM13v2.039,741,907 - 9,749,363 (+)NCBI
Sequence:
RefSeq Acc Id: NM_016821   ⟹   NP_058214
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3839,749,952 - 9,766,650 (+)NCBI
GRCh3739,791,628 - 9,829,468 (+)NCBI
Build 3639,766,661 - 9,783,342 (+)NCBI Archive
HuRef39,727,975 - 9,744,701 (+)ENTREZGENE
CHM1_139,741,823 - 9,758,548 (+)NCBI
T2T-CHM13v2.039,741,907 - 9,758,605 (+)NCBI
Sequence:
RefSeq Acc Id: NM_016826   ⟹   NP_058434
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3839,749,952 - 9,766,650 (+)NCBI
GRCh3739,791,628 - 9,829,468 (+)NCBI
Build 3639,766,654 - 9,783,316 (+)NCBI Archive
HuRef39,727,975 - 9,744,701 (+)ENTREZGENE
CHM1_139,741,823 - 9,758,548 (+)NCBI
T2T-CHM13v2.039,741,907 - 9,758,605 (+)NCBI
Sequence:
RefSeq Acc Id: NM_016827   ⟹   NP_058436
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3839,749,952 - 9,766,650 (+)NCBI
GRCh3739,791,628 - 9,829,468 (+)NCBI
Build 3639,766,654 - 9,783,316 (+)NCBI Archive
HuRef39,727,975 - 9,744,701 (+)ENTREZGENE
CHM1_139,741,823 - 9,758,548 (+)NCBI
T2T-CHM13v2.039,741,907 - 9,758,605 (+)NCBI
Sequence:
RefSeq Acc Id: NM_016828   ⟹   NP_058437
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3839,749,952 - 9,766,650 (+)NCBI
GRCh3739,791,628 - 9,829,468 (+)NCBI
Build 3639,766,654 - 9,783,316 (+)NCBI Archive
HuRef39,727,975 - 9,744,701 (+)ENTREZGENE
CHM1_139,741,823 - 9,758,548 (+)NCBI
T2T-CHM13v2.039,741,907 - 9,758,605 (+)NCBI
Sequence:
RefSeq Acc Id: NM_016829   ⟹   NP_058438
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3839,749,952 - 9,766,650 (+)NCBI
GRCh3739,791,628 - 9,829,468 (+)NCBI
Build 3639,766,654 - 9,783,316 (+)NCBI Archive
HuRef39,727,975 - 9,744,701 (+)ENTREZGENE
CHM1_139,741,823 - 9,758,548 (+)NCBI
T2T-CHM13v2.039,741,907 - 9,758,605 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148930
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3839,749,952 - 9,757,407 (+)NCBI
T2T-CHM13v2.039,741,907 - 9,749,363 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148931
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3839,749,952 - 9,757,407 (+)NCBI
T2T-CHM13v2.039,741,907 - 9,749,363 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148932
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3839,749,952 - 9,757,407 (+)NCBI
T2T-CHM13v2.039,741,907 - 9,749,363 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006493   ⟹   XP_016861982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3839,749,952 - 9,757,407 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006494   ⟹   XP_016861983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3839,749,952 - 9,781,840 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006495   ⟹   XP_016861984
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3839,749,952 - 9,757,407 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006497   ⟹   XP_016861986
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3839,749,952 - 9,783,108 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047448200   ⟹   XP_047304156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3839,749,952 - 9,783,108 (+)NCBI
RefSeq Acc Id: XM_047448201   ⟹   XP_047304157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3839,749,952 - 9,783,108 (+)NCBI
RefSeq Acc Id: XM_047448202   ⟹   XP_047304158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3839,749,952 - 9,783,108 (+)NCBI
RefSeq Acc Id: XM_047448203   ⟹   XP_047304159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3839,749,952 - 9,754,783 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001341577 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341578 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341579 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341580 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341581 (Get FASTA)   NCBI Sequence Viewer  
  NP_001421374 (Get FASTA)   NCBI Sequence Viewer  
  NP_001421375 (Get FASTA)   NCBI Sequence Viewer  
  NP_001421376 (Get FASTA)   NCBI Sequence Viewer  
  NP_001421377 (Get FASTA)   NCBI Sequence Viewer  
  NP_001421378 (Get FASTA)   NCBI Sequence Viewer  
  NP_001421379 (Get FASTA)   NCBI Sequence Viewer  
  NP_002533 (Get FASTA)   NCBI Sequence Viewer  
  NP_058212 (Get FASTA)   NCBI Sequence Viewer  
  NP_058213 (Get FASTA)   NCBI Sequence Viewer  
  NP_058214 (Get FASTA)   NCBI Sequence Viewer  
  NP_058434 (Get FASTA)   NCBI Sequence Viewer  
  NP_058436 (Get FASTA)   NCBI Sequence Viewer  
  NP_058437 (Get FASTA)   NCBI Sequence Viewer  
  NP_058438 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861982 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861983 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861984 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861986 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304156 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304157 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304158 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304159 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB61340 (Get FASTA)   NCBI Sequence Viewer  
  AAB68614 (Get FASTA)   NCBI Sequence Viewer  
  AAB68615 (Get FASTA)   NCBI Sequence Viewer  
  AAB81132 (Get FASTA)   NCBI Sequence Viewer  
  AAB84013 (Get FASTA)   NCBI Sequence Viewer  
  AAD41680 (Get FASTA)   NCBI Sequence Viewer  
  AAD41681 (Get FASTA)   NCBI Sequence Viewer  
  AAD41682 (Get FASTA)   NCBI Sequence Viewer  
  AAH00657 (Get FASTA)   NCBI Sequence Viewer  
  AAM74236 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20117 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20118 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20119 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20120 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20121 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20122 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20123 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20124 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20125 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20126 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20127 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20128 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20129 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20130 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20131 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20132 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20133 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20134 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20135 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20136 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20137 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20138 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20139 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20140 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20141 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20142 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20143 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20144 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20145 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20146 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20147 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20148 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20149 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20150 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20151 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20152 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20153 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20154 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20155 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20156 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20157 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20158 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20159 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20160 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20161 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20162 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20163 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20164 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20165 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20166 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20167 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20168 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20169 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20170 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20171 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20172 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20173 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20174 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20175 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20176 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20177 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20178 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20179 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20180 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20181 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20182 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20183 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20184 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20185 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20186 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20187 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20188 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20189 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20190 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20191 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20192 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20193 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20194 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20195 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20196 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20197 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20198 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20199 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20200 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20201 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20202 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20203 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20204 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20205 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20206 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20207 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20208 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20209 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20210 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20211 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20212 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20213 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20214 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20215 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20216 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20217 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20218 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20219 (Get FASTA)   NCBI Sequence Viewer  
  ADQ20220 (Get FASTA)   NC