CYBA (cytochrome b-245 alpha chain) - Rat Genome Database

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Gene: CYBA (cytochrome b-245 alpha chain) Homo sapiens
Analyze
Symbol: CYBA
Name: cytochrome b-245 alpha chain
RGD ID: 734174
HGNC Page HGNC
Description: Exhibits SH3 domain binding activity; electron transfer activity; and protein heterodimerization activity. Contributes to superoxide-generating NAD(P)H oxidase activity. Involved in several processes, including positive regulation of cytokine production; positive regulation of toll-like receptor 2 signaling pathway; and superoxide anion generation. Localizes to NADPH oxidase complex. Implicated in artery disease (multiple); asthma; chronic obstructive pulmonary disease; and phagocyte bactericidal dysfunction (multiple). Biomarker of acute lymphoblastic leukemia and obstructive sleep apnea.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: CGD4; cytochrome b light chain; cytochrome b(558) alpha chain; cytochrome b(558) alpha-subunit; cytochrome b, alpha polypeptide; cytochrome b-245 light chain; cytochrome b-245, alpha polypeptide; cytochrome b558 alpha-subunit; cytochrome b558 subunit alpha; flavocytochrome b-558 alpha polypeptide; FLJ43590; FLJ99071; neutrophil cytochrome b 22 kDa polypeptide; p22 phagocyte B-cytochrome; p22-PHOX; p22phox; superoxide-generating NADPH oxidase light chain subunit
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1688,643,289 - 88,651,054 (-)EnsemblGRCh38hg38GRCh38
GRCh381688,643,289 - 88,651,079 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371688,709,697 - 88,717,461 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361687,237,198 - 87,244,958 (-)NCBINCBI36hg18NCBI36
Build 341687,237,198 - 87,244,950NCBI
Celera1673,779,369 - 73,787,129 (-)NCBI
Cytogenetic Map16q24.2NCBI
HuRef1674,403,728 - 74,411,523 (-)NCBIHuRef
CHM1_11690,120,999 - 90,128,842 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
11-deoxycorticosterone  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-amino-2-deoxy-D-galactopyranose  (ISO)
2-amino-2-deoxy-D-glucopyranose  (EXP)
2-hydroxypropanoic acid  (EXP)
3-chloropropane-1,2-diol  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
AICA ribonucleotide  (ISO)
aldehydo-D-glucosamine  (EXP)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
aminoguanidine  (ISO)
amlodipine  (ISO)
ammonium chloride  (ISO)
anagliptin  (EXP)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
antirheumatic drug  (EXP)
apocynin  (ISO)
aristolochic acid  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atorvastatin calcium  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-D-glucosamine  (EXP)
bezafibrate  (EXP,ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
bortezomib  (EXP)
butan-1-ol  (EXP)
Butylparaben  (EXP)
C60 fullerene  (ISO)
cadmium dichloride  (EXP,ISO)
calcitriol  (ISO)
candesartan  (EXP,ISO)
canrenoic acid  (ISO)
carbon nanotube  (ISO)
chloropicrin  (EXP)
choline  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
cobalt dichloride  (ISO)
cocaine  (ISO)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP)
cytarabine  (EXP)
D-glucose  (EXP,ISO)
daunorubicin  (ISO)
DDE  (EXP)
decabromodiphenyl ether  (ISO)
dehydroepiandrosterone  (ISO)
Deoxycorticosterone acetate  (ISO)
dextran sulfate  (ISO)
diallyl trisulfide  (ISO)
diarsenic trioxide  (EXP)
diazinon  (EXP)
dibenziodolium  (ISO)
diclofenac  (ISO)
dorsomorphin  (EXP)
doxorubicin  (ISO)
enalapril  (ISO)
endosulfan  (ISO)
eplerenone  (ISO)
ethanol  (EXP,ISO)
farrerol  (ISO)
fenamidone  (ISO)
flavonoids  (EXP)
folic acid  (ISO)
furan  (ISO)
genistein  (EXP,ISO)
gentamycin  (ISO)
ginsenoside Re  (ISO)
glucose  (EXP,ISO)
GW 6471  (ISO)
hexadecanoic acid  (ISO)
hydrochlorothiazide  (ISO)
hydrogen peroxide  (EXP,ISO)
iron dextran  (ISO)
isobutanol  (EXP)
isoprenaline  (ISO)
ketamine  (ISO)
L-ascorbic acid  (EXP)
L-methionine  (ISO)
Lasiocarpine  (EXP)
lipopolysaccharide  (EXP,ISO)
loganin  (ISO)
lutein  (ISO)
manidipine  (EXP)
menadione  (ISO)
mercury dichloride  (ISO)
metformin  (EXP,ISO)
methanol  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
N-acetyl-L-cysteine  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
N-Nitrosopyrrolidine  (EXP)
naringin  (EXP)
nebivolol  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
nicotinamide  (ISO)
nicotinic acid  (ISO)
O-methyleugenol  (EXP)
ochratoxin A  (EXP,ISO)
olmesartan  (ISO)
oxalic acid  (EXP)
oxycodone  (ISO)
paracetamol  (EXP,ISO)
paricalcitol  (ISO)
phencyclidine  (ISO)
phenethyl caffeate  (ISO)
phenol  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
pioglitazone  (EXP,ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
pravastatin  (ISO)
probenecid  (EXP)
progesterone  (ISO)
quercetin  (EXP,ISO)
rac-lactic acid  (EXP)
ramipril  (EXP,ISO)
reactive oxygen species  (ISO)
resveratrol  (EXP,ISO)
rosuvastatin calcium  (ISO)
rotenone  (ISO)
SB 203580  (ISO)
silicon dioxide  (ISO)
simvastatin  (EXP)
sirolimus  (ISO)
sirtinol  (ISO)
sodium arsenite  (EXP,ISO)
sodium chloride  (ISO)
sodium fluoride  (EXP)
Soman  (ISO)
streptozocin  (ISO)
sunitinib  (EXP)
superoxide  (EXP,ISO)
tacrolimus hydrate  (EXP)
tamibarotene  (EXP)
tamoxifen  (ISO)
tebuconazole  (EXP)
telmisartan  (ISO)
testosterone  (ISO)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trandolapril  (ISO)
triphenyl phosphate  (ISO)
triphenylstannane  (EXP)
troglitazone  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
cellular response to amino acid stimulus  (ISO)
cellular response to angiotensin  (IEA,ISO)
cellular response to gamma radiation  (IEA,ISO)
cellular response to glucose stimulus  (IEA,ISO)
cellular response to L-glutamine  (IEA,ISO)
cellular response to mechanical stimulus  (IEA,ISO)
cellular response to organic cyclic compound  (IEA,ISO)
cellular response to organic substance  (ISO)
cellular response to tumor necrosis factor  (IEA,ISO)
cytochrome complex assembly  (IDA)
electron transport chain  (IEA)
hydrogen peroxide biosynthetic process  (ISS)
inflammatory response  (IMP)
innate immune response  (IMP,ISS)
negative regulation of glomerular filtration by angiotensin  (IEA,ISO)
positive regulation of blood pressure  (ISO)
positive regulation of cell growth  (IEA,ISO)
positive regulation of defense response to bacterium  (IDA)
positive regulation of endothelial cell proliferation  (IEA,ISO)
positive regulation of interleukin-6 production  (IDA)
positive regulation of mucus secretion  (IEA,ISO)
positive regulation of NAD(P)H oxidase activity  (IEA,ISO)
positive regulation of oxygen metabolic process  (ISO)
positive regulation of phagocytosis  (IDA)
positive regulation of reactive oxygen species biosynthetic process  (IDA)
positive regulation of smooth muscle cell proliferation  (IEA,ISO)
positive regulation of superoxide anion generation  (IEA,ISO)
positive regulation of toll-like receptor 2 signaling pathway  (IDA)
positive regulation of tumor necrosis factor production  (IDA)
reactive oxygen species metabolic process  (ISO)
regulation of release of sequestered calcium ion into cytosol  (IEA,ISO)
respiratory burst  (IMP)
response to activity  (IEA,ISO)
response to aldosterone  (IEA,ISO)
response to drug  (IEA,ISO)
response to hypoxia  (IEA,ISO)
response to interleukin-1  (IEA,ISO)
response to nutrient levels  (IEA,ISO)
smooth muscle hypertrophy  (ISS)
superoxide anion generation  (IBA,IMP)
superoxide metabolic process  (IMP,ISO)

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
1. Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
2. Byrnes KR, etal., Glia. 2006 Mar;53(4):420-33.
3. Cho KH, etal., Am J Physiol Renal Physiol. 2009 May 6.
4. de Boer M, etal., Am J Hum Genet. 1992 Nov;51(5):1127-35.
5. DeMarco VG, etal., Am J Physiol Heart Circ Physiol. 2008 Jun;294(6):H2659-68. Epub 2008 Apr 18.
6. Dinauer MC, etal., J Clin Invest 1990 Nov;86(5):1729-37.
7. Fukui T, etal., Biochem Biophys Res Commun. 2001 Mar;281(5):1200-6.
8. Gao L, etal., Lab Invest. 2008 Nov;88(11):1157-66. Epub 2008 Sep 1.
9. Gardemann A, etal., Atherosclerosis. 1999 Aug;145(2):315-23.
10. GOA_HUMAN data from the GO Consortium
11. He YL, etal., Zhongguo Dang Dai Er Ke Za Zhi. 2009 Feb;11(2):88-92.
12. Izakovicova Holla L, etal., Int Arch Allergy Immunol. 2009;148(1):73-80. Epub 2008 Aug 21.
13. Kusaka I, etal., Am J Physiol Heart Circ Physiol. 2004 Jun;286(6):H2442-51.
14. Lee PL, etal., J Negat Results Biomed. 2006 Apr 11;5:5.
15. Liu HG, etal., Chin Med J (Engl). 2009 Jun 20;122(12):1369-74.
16. Liu HG, etal., Zhonghua Jie He He Hu Xi Za Zhi. 2010 Feb;33(2):118-22.
17. Matsunaga-Irie S, etal., Diabetes Care. 2004 Feb;27(2):303-7.
18. Moreno MU, etal., FEBS Lett. 2003 May 8;542(1-3):27-31.
19. Mori M, etal., J Leukoc Biol. 2009 Sep;86(3):473-8. doi: 10.1189/jlb.1108715. Epub 2009 Apr 30.
20. Nisbet RE, etal., Am J Respir Cell Mol Biol. 2009 May;40(5):601-9. Epub 2008 Oct 23.
21. Olukman M, etal., J Diabetes Complications. 2010 Mar 10.
22. OMIM Disease Annotation Pipeline
23. Picchi A, etal., Circ Res. 2006 Jul 7;99(1):69-77. Epub 2006 Jun 1.
24. Pipeline to import KEGG annotations from KEGG into RGD
25. Pipeline to import SMPDB annotations from SMPDB into RGD
26. Polonikov AV, etal., Ter Arkh. 2009;81(3):31-5.
27. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
28. RGD automated import pipeline for gene-chemical interactions
29. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
30. Sasser JM, etal., Am J Physiol Regul Integr Comp Physiol. 2010 Mar;298(3):R740-6. Epub 2009 Dec 16.
31. Shah DI and Singh M, Fundam Clin Pharmacol. 2006 Dec;20(6):595-604.
32. Shimokata K, etal., Atherosclerosis. 2004 Jan;172(1):167-73.
33. Teimourian S, etal., Br J Haematol. 2008 Jun;141(6):848-51. Epub 2008 Apr 18.
34. Tomozawa H, etal., Exp Anim. 2010;59(4):469-78.
35. Tomozawa H, etal., Exp Anim. 2011;60(2):151-60.
36. Vibhuti A, etal., Clin Chim Acta. 2010 Apr 2;411(7-8):474-80. Epub 2010 Jan 18.
37. Wu YJ, etal., Zhongguo Zhong Xi Yi Jie He Za Zhi. 2013 May;33(5):641-5.
38. Yamada M, etal., Br J Haematol. 2000 Mar;108(3):511-7.
39. Yoshida Y, etal., Diabetes Metab Res Rev. 2009 Oct;25(7):678-86.
Additional References at PubMed
PMID:1763037   PMID:2286377   PMID:2469497   PMID:3305576   PMID:3368442   PMID:7938008   PMID:7964505   PMID:8798532   PMID:8920944   PMID:9083043   PMID:9121467   PMID:10486263  
PMID:11023926   PMID:11133215   PMID:11248021   PMID:11258927   PMID:11530961   PMID:11733522   PMID:11854221   PMID:11893732   PMID:11910303   PMID:11917128   PMID:11940577   PMID:12005167  
PMID:12042318   PMID:12056906   PMID:12073015   PMID:12121978   PMID:12147803   PMID:12226552   PMID:12230880   PMID:12446192   PMID:12477932   PMID:12482831   PMID:12514663   PMID:12547880  
PMID:12639216   PMID:12679469   PMID:12697486   PMID:12716910   PMID:12772776   PMID:12927691   PMID:14578247   PMID:14652666   PMID:14679084   PMID:14702039   PMID:14968555   PMID:15078863  
PMID:15102859   PMID:15135268   PMID:15167446   PMID:15172469   PMID:15186954   PMID:15193812   PMID:15210651   PMID:15219943   PMID:15231747   PMID:15255799   PMID:15256399   PMID:15322037  
PMID:15322091   PMID:15461271   PMID:15489334   PMID:15530459   PMID:15538122   PMID:15561711   PMID:15671602   PMID:15683718   PMID:15824103   PMID:15838728   PMID:15865106   PMID:15927447  
PMID:15936011   PMID:15994299   PMID:16002772   PMID:16076760   PMID:16110781   PMID:16115038   PMID:16215641   PMID:16293794   PMID:16308493   PMID:16326715   PMID:16330681   PMID:16358232  
PMID:16460309   PMID:16543247   PMID:16546843   PMID:16738684   PMID:16754784   PMID:16788250   PMID:16794479   PMID:16895900   PMID:16899095   PMID:16922713   PMID:16923427   PMID:16998253  
PMID:17015440   PMID:17126813   PMID:17140397   PMID:17149600   PMID:17151330   PMID:17200123   PMID:17227953   PMID:17307262   PMID:17314996   PMID:17336700   PMID:17337886   PMID:17383305  
PMID:17445342   PMID:17563559   PMID:17565201   PMID:17617024   PMID:17620958   PMID:17627182   PMID:17684442   PMID:17684477   PMID:17703412   PMID:17803994   PMID:17880563   PMID:17996248  
PMID:18004884   PMID:18077487   PMID:18158642   PMID:18239158   PMID:18309110   PMID:18324526   PMID:18327409   PMID:18390927   PMID:18398337   PMID:18413200   PMID:18429753   PMID:18546332  
PMID:18672803   PMID:18720901   PMID:18799874   PMID:18801380   PMID:18849343   PMID:18927546   PMID:19012493   PMID:19043982   PMID:19060904   PMID:19089790   PMID:19102345   PMID:19126404  
PMID:19151692   PMID:19198108   PMID:19203534   PMID:19251588   PMID:19260521   PMID:19292887   PMID:19336475   PMID:19388116   PMID:19401454   PMID:19420105   PMID:19423521   PMID:19423540  
PMID:19448608   PMID:19466604   PMID:19516159   PMID:19531958   PMID:19564823   PMID:19574552   PMID:19578796   PMID:19641494   PMID:19689263   PMID:19853876   PMID:19913121   PMID:19946888  
PMID:19949658   PMID:19965945   PMID:20031716   PMID:20100625   PMID:20167518   PMID:20215507   PMID:20304964   PMID:20367096   PMID:20375611   PMID:20378006   PMID:20392440   PMID:20406964  
PMID:20407811   PMID:20438785   PMID:20454568   PMID:20495074   PMID:20503287   PMID:20505675   PMID:20512451   PMID:20523355   PMID:20565774   PMID:20581851   PMID:20598694   PMID:20603655  
PMID:20628086   PMID:20708598   PMID:21045268   PMID:21048031   PMID:21082491   PMID:21086617   PMID:21118808   PMID:21136016   PMID:21237524   PMID:21282351   PMID:21622150   PMID:21624462  
PMID:21640156   PMID:21699462   PMID:21777168   PMID:21873635   PMID:21884584   PMID:21962117   PMID:21973220   PMID:21988832   PMID:22268370   PMID:22357521   PMID:22396743   PMID:22410402  
PMID:22423966   PMID:22496489   PMID:22613645   PMID:22747689   PMID:22807997   PMID:22808130   PMID:22876374   PMID:22884975   PMID:22919264   PMID:22932942   PMID:22995606   PMID:22997914  
PMID:23409188   PMID:23576480   PMID:23684671   PMID:23701472   PMID:23755540   PMID:23821607   PMID:23905423   PMID:23922196   PMID:23949976   PMID:23957209   PMID:24033955   PMID:24035466  
PMID:24039708   PMID:24113386   PMID:24156725   PMID:24339896   PMID:24345348   PMID:24349292   PMID:24392120   PMID:24415302   PMID:24477591   PMID:24486703   PMID:24573492   PMID:24647736  
PMID:24864467   PMID:24890187   PMID:25095657   PMID:25173715   PMID:25252997   PMID:25307973   PMID:25416956   PMID:25569182   PMID:25572489   PMID:25599773   PMID:25619262   PMID:25686830  
PMID:25697362   PMID:25787042   PMID:25823784   PMID:25862415   PMID:25888935   PMID:25990054   PMID:26000926   PMID:26117319   PMID:26130419   PMID:26244812   PMID:26317224   PMID:26415877  
PMID:26467818   PMID:26607824   PMID:26627442   PMID:26760964   PMID:26852662   PMID:27048830   PMID:27162237   PMID:27314008   PMID:27607450   PMID:27614387   PMID:27870947   PMID:27901128  
PMID:27926811   PMID:28375031   PMID:28457704   PMID:28474233   PMID:28510479   PMID:28514442   PMID:28729471   PMID:28830888   PMID:28941186   PMID:29132304   PMID:29507755   PMID:29924645  
PMID:29948131   PMID:30044122   PMID:30087027   PMID:30226557   PMID:30296872   PMID:30654669   PMID:30665935   PMID:31527615   PMID:31536960   PMID:31847541   PMID:32000019   PMID:32165681  
PMID:32694731   PMID:33228505  


Genomics

Comparative Map Data
CYBA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1688,643,289 - 88,651,054 (-)EnsemblGRCh38hg38GRCh38
GRCh381688,643,289 - 88,651,079 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371688,709,697 - 88,717,461 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361687,237,198 - 87,244,958 (-)NCBINCBI36hg18NCBI36
Build 341687,237,198 - 87,244,950NCBI
Celera1673,779,369 - 73,787,129 (-)NCBI
Cytogenetic Map16q24.2NCBI
HuRef1674,403,728 - 74,411,523 (-)NCBIHuRef
CHM1_11690,120,999 - 90,128,842 (-)NCBICHM1_1
Cyba
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398123,151,510 - 123,159,679 (-)NCBIGRCm39mm39
GRCm39 Ensembl8123,151,515 - 123,159,669 (-)Ensembl
GRCm388122,424,771 - 122,432,940 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8122,424,776 - 122,432,930 (-)EnsemblGRCm38mm10GRCm38
MGSCv378124,948,671 - 124,956,840 (-)NCBIGRCm37mm9NCBIm37
MGSCv368125,310,866 - 125,319,017 (-)NCBImm8
Celera8126,653,882 - 126,662,049 (-)NCBICelera
Cytogenetic Map8E1NCBI
Cyba
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21950,487,598 - 50,495,669 (-)NCBI
Rnor_6.0 Ensembl1955,249,616 - 55,257,876 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01955,249,634 - 55,257,824 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01965,959,818 - 65,967,224 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41952,713,150 - 52,721,609 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11952,718,030 - 52,726,490 (-)NCBI
Celera1949,727,142 - 49,735,154 (-)NCBICelera
Cytogenetic Map19q12NCBI
LOC102004641
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555412,569,727 - 2,574,118 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555412,570,843 - 2,573,822 (-)NCBIChiLan1.0ChiLan1.0
LOC100986914
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11689,016,349 - 89,024,719 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1689,016,349 - 89,024,719 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01669,356,396 - 69,364,225 (-)NCBIMhudiblu_PPA_v0panPan3
CYBA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1564,692,865 - 64,701,056 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl564,692,123 - 64,704,893 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha564,703,545 - 64,711,735 (+)NCBI
ROS_Cfam_1.0564,912,202 - 64,920,393 (+)NCBI
UMICH_Zoey_3.1564,938,335 - 64,946,503 (+)NCBI
UNSW_CanFamBas_1.0564,770,091 - 64,778,279 (+)NCBI
UU_Cfam_GSD_1.0565,176,122 - 65,184,313 (+)NCBI
LOC101967032
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934925,283,408 - 25,291,407 (+)NCBI
SpeTri2.0NW_0049366411,036,967 - 1,044,954 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CYBA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl61,015,154 - 1,021,418 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.161,015,212 - 1,021,422 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
LOC103233451
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1574,023,134 - 74,030,793 (-)NCBI
ChlSab1.1 Ensembl574,023,082 - 74,030,750 (-)Ensembl
Vero_WHO_p1.0NW_0236660471,654,155 - 1,661,751 (+)NCBI
LOC101717043
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624746911,852 - 919,361 (+)NCBI

Position Markers
G62102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371688,718,833 - 88,718,947UniSTSGRCh37
Build 361687,246,334 - 87,246,448RGDNCBI36
Celera1673,788,505 - 73,788,619RGD
Cytogenetic Map16q24UniSTS
Cytogenetic Map16q24.3UniSTS
HuRef1674,412,864 - 74,412,978UniSTS
MVD_8513  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371688,718,315 - 88,718,999UniSTSGRCh37
Build 361687,245,816 - 87,246,500RGDNCBI36
Celera1673,787,987 - 73,788,671RGD
HuRef1674,412,346 - 74,413,030UniSTS
SHGC-60150  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371688,710,096 - 88,710,250UniSTSGRCh37
Build 361687,237,597 - 87,237,751RGDNCBI36
Celera1673,779,768 - 73,779,922RGD
Cytogenetic Map16q24UniSTS
HuRef1674,404,127 - 74,404,281UniSTS
TNG Radiation Hybrid Map1640544.0UniSTS
RH68091  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371688,710,073 - 88,710,206UniSTSGRCh37
Build 361687,237,574 - 87,237,707RGDNCBI36
Celera1673,779,745 - 73,779,878RGD
Cytogenetic Map16q24UniSTS
HuRef1674,404,104 - 74,404,237UniSTS
GeneMap99-GB4 RH Map16487.57UniSTS
STS-U49260  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371688,718,751 - 88,718,940UniSTSGRCh37
Build 361687,246,252 - 87,246,441RGDNCBI36
Celera1673,788,423 - 73,788,612RGD
Cytogenetic Map16q24UniSTS
Cytogenetic Map16q24.3UniSTS
HuRef1674,412,782 - 74,412,971UniSTS
GeneMap99-GB4 RH Map16488.47UniSTS
NCBI RH Map16670.3UniSTS
SHGC-60170  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371688,710,242 - 88,710,360UniSTSGRCh37
Build 361687,237,743 - 87,237,861RGDNCBI36
Celera1673,779,914 - 73,780,032RGD
Cytogenetic Map16q24UniSTS
HuRef1674,404,273 - 74,404,391UniSTS
TNG Radiation Hybrid Map1640544.0UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS
RH80030  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map12q15-q21UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2p22.2UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map11q22.2-q22.3UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map10q26.13-q26.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map2q32.2UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
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Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3806
Count of miRNA genes:988
Interacting mature miRNAs:1232
Transcripts:ENST00000261623, ENST00000561972, ENST00000562209, ENST00000563526, ENST00000565588, ENST00000566229, ENST00000566534, ENST00000567174, ENST00000568278, ENST00000569359
Prediction methods:Microtar, 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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 50 50 11
Medium 2400 2507 1503 469 1893 310 3238 1081 1867 385 1066 1548 174 1 1202 1784 6 2
Low 34 434 217 151 7 151 1110 1108 1824 31 378 36 1 2 1004
Below cutoff 4 6 4 1 4 5 7 31 2 4 27

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC116552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY128666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX109994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ482653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M21186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000261623   ⟹   ENSP00000261623
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1688,643,289 - 88,651,053 (-)Ensembl
RefSeq Acc Id: ENST00000561972
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1688,647,693 - 88,651,054 (-)Ensembl
RefSeq Acc Id: ENST00000562209
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1688,646,141 - 88,651,031 (-)Ensembl
RefSeq Acc Id: ENST00000563526
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1688,645,965 - 88,650,988 (-)Ensembl
RefSeq Acc Id: ENST00000565588   ⟹   ENSP00000455537
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1688,643,514 - 88,646,825 (-)Ensembl
RefSeq Acc Id: ENST00000566229   ⟹   ENSP00000457060
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1688,643,540 - 88,650,314 (-)Ensembl
RefSeq Acc Id: ENST00000566534
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1688,643,514 - 88,651,035 (-)Ensembl
RefSeq Acc Id: ENST00000567174   ⟹   ENSP00000454951
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1688,644,742 - 88,651,041 (-)Ensembl
RefSeq Acc Id: ENST00000568278   ⟹   ENSP00000455506
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1688,646,132 - 88,651,015 (-)Ensembl
RefSeq Acc Id: ENST00000569359   ⟹   ENSP00000456079
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1688,645,087 - 88,651,030 (-)Ensembl
RefSeq Acc Id: NM_000101   ⟹   NP_000092
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381688,643,289 - 88,651,053 (-)NCBI
GRCh371688,709,697 - 88,717,492 (-)NCBI
Build 361687,237,198 - 87,244,958 (-)NCBI Archive
HuRef1674,403,728 - 74,411,523 (-)NCBI
CHM1_11690,120,999 - 90,128,842 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011522905   ⟹   XP_011521207
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381688,643,584 - 88,651,079 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000092   ⟸   NM_000101
- UniProtKB: P13498 (UniProtKB/Swiss-Prot),   B4DT46 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011521207   ⟸   XM_011522905
- Peptide Label: isoform X1
- UniProtKB: H3BNP7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000261623   ⟸   ENST00000261623
RefSeq Acc Id: ENSP00000455537   ⟸   ENST00000565588
RefSeq Acc Id: ENSP00000457060   ⟸   ENST00000566229
RefSeq Acc Id: ENSP00000454951   ⟸   ENST00000567174
RefSeq Acc Id: ENSP00000455506   ⟸   ENST00000568278
RefSeq Acc Id: ENSP00000456079   ⟸   ENST00000569359

Promoters
RGD ID:6792836
Promoter ID:HG_KWN:24460
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:UC002FLC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361687,237,676 - 87,240,477 (-)MPROMDB
RGD ID:6792840
Promoter ID:HG_KWN:24461
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_000101,   UC002FLD.1,   UC002FLE.1,   UC010CHX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361687,243,916 - 87,245,612 (-)MPROMDB
RGD ID:6853208
Promoter ID:EP74425
Type:multiple initiation site
Name:HS_CYBA
Description:Cytochrome b-245, alpha polypeptide.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361687,244,949 - 87,245,009EPD
RGD ID:7233113
Promoter ID:EPDNEW_H22301
Type:initiation region
Name:CYBA_1
Description:cytochrome b-245 alpha chain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381688,651,053 - 88,651,113EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000101.4(CYBA):c.240C>T (p.Phe80=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000546746] Chr16:88646802 [GRCh38]
Chr16:88713210 [GRCh37]
Chr16:16q24.2
likely benign
nsv513777 deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000002344] Chr16:16q24 pathogenic
NM_000101.4:c.246del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000002345] Chr16:16q24 pathogenic
NM_000101.4(CYBA):c.287+1G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000002350] Chr16:88646754 [GRCh38]
Chr16:88713162 [GRCh37]
Chr16:16q24.2
pathogenic
NM_000101.4(CYBA):c.288-13_310del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000002354] Chr16:88646175..88646210 [GRCh38]
Chr16:88712583..88712618 [GRCh37]
Chr16:16q24.2
pathogenic
NM_000101.4(CYBA):c.386_433dup (p.Glu129_Ile144dup) duplication Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000528809] Chr16:88643507..88643508 [GRCh38]
Chr16:88709915..88709916 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.269G>A (p.Arg90Gln) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000002346] Chr16:88646773 [GRCh38]
Chr16:88713181 [GRCh37]
Chr16:16q24.2
pathogenic
NM_000101.4(CYBA):c.354C>A (p.Ser118Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000002347]|not provided [RCV000059045] Chr16:88646131 [GRCh38]
Chr16:88712539 [GRCh37]
Chr16:16q24.2
pathogenic|uncertain significance|not provided
NM_000101.4(CYBA):c.467C>A (p.Pro156Gln) single nucleotide variant Chronic granulomatous disease [RCV000208600]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000002348] Chr16:88643474 [GRCh38]
Chr16:88709882 [GRCh37]
Chr16:16q24.2
pathogenic
NM_000101.4(CYBA):c.281A>G (p.His94Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000002349] Chr16:88646761 [GRCh38]
Chr16:88713169 [GRCh37]
Chr16:16q24.2
pathogenic
NM_000101.4(CYBA):c.214T>C (p.Tyr72His) single nucleotide variant CYBA POLYMORPHISM [RCV000002351]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000989646]|Very early onset inflammatory bowel disease [RCV000736011]|not specified [RCV000249071] Chr16:88646828 [GRCh38]
Chr16:88713236 [GRCh37]
Chr16:16q24.2
likely pathogenic|benign
NM_000101.4(CYBA):c.7C>T (p.Gln3Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000002352] Chr16:88651007 [GRCh38]
Chr16:88717415 [GRCh37]
Chr16:16q24.2
pathogenic
NM_000101.4(CYBA):c.70G>A (p.Gly24Arg) single nucleotide variant Chronic granulomatous disease [RCV001274006]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000002353]|not provided [RCV001093039] Chr16:88648103 [GRCh38]
Chr16:88714511 [GRCh37]
Chr16:16q24.2
pathogenic
NM_000101.4(CYBA):c.373G>A (p.Ala125Thr) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000002355] Chr16:88643568 [GRCh38]
Chr16:88709976 [GRCh37]
Chr16:16q24.2
pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3 copy number gain See cases [RCV000050840] Chr16:78816291..90081985 [GRCh38]
Chr16:78850188..90148393 [GRCh37]
Chr16:77407689..88675894 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 copy number gain See cases [RCV000052422] Chr16:70514631..90081985 [GRCh38]
Chr16:70548534..90148393 [GRCh37]
Chr16:69106035..88675894 [NCBI36]
Chr16:16q22.1-24.3
pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3 copy number gain See cases [RCV000052423] Chr16:76873569..90081985 [GRCh38]
Chr16:76907466..90148393 [GRCh37]
Chr16:75464967..88675894 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3 copy number gain See cases [RCV000052424] Chr16:82173150..90081985 [GRCh38]
Chr16:82206755..90148393 [GRCh37]
Chr16:80764256..88675894 [NCBI36]
Chr16:16q23.3-24.3
pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:84707538-90081985)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|See cases [RCV000052425] Chr16:84707538..90081985 [GRCh38]
Chr16:84741144..90148393 [GRCh37]
Chr16:83298645..88675894 [NCBI36]
Chr16:16q24.1-24.3
pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3 copy number gain See cases [RCV000052428] Chr16:87853401..90081985 [GRCh38]
Chr16:87887007..90148393 [GRCh37]
Chr16:86444508..88675894 [NCBI36]
Chr16:16q24.2-24.3
pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1 copy number loss See cases [RCV000053380] Chr16:88640116..89530475 [GRCh38]
Chr16:88706524..89596883 [GRCh37]
Chr16:87234025..88124384 [NCBI36]
Chr16:16q24.2-24.3
pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1 copy number loss See cases [RCV000053362] Chr16:87306529..89269079 [GRCh38]
Chr16:87340135..89335487 [GRCh37]
Chr16:85897636..87862988 [NCBI36]
Chr16:16q24.2-24.3
pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1 copy number loss See cases [RCV000053363] Chr16:88159660..89506042 [GRCh38]
Chr16:88193266..89572450 [GRCh37]
Chr16:86750767..88099951 [NCBI36]
Chr16:16q24.2-24.3
pathogenic
NM_000101.4(CYBA):c.155T>C (p.Leu52Pro) single nucleotide variant not provided [RCV000059042] Chr16:88647149 [GRCh38]
Chr16:88713557 [GRCh37]
Chr16:16q24.2
pathogenic|not provided
NM_000101.4(CYBA):c.158A>T (p.Glu53Val) single nucleotide variant not provided [RCV000059043] Chr16:88647146 [GRCh38]
Chr16:88713554 [GRCh37]
Chr16:16q24.2
not provided
NM_000101.4(CYBA):c.268C>T (p.Arg90Trp) single nucleotide variant Chronic granulomatous disease [RCV001271457]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000687649]|not provided [RCV000059044] Chr16:88646774 [GRCh38]
Chr16:88713182 [GRCh37]
Chr16:16q24.2
pathogenic|not provided
NM_000101.4(CYBA):c.371C>T (p.Ala124Val) single nucleotide variant not provided [RCV000059046] Chr16:88643570 [GRCh38]
Chr16:88709978 [GRCh37]
Chr16:16q24.2
not provided
NM_000101.4(CYBA):c.74G>T (p.Gly25Val) single nucleotide variant not provided [RCV000059047] Chr16:88648099 [GRCh38]
Chr16:88714507 [GRCh37]
Chr16:16q24.2
not provided
NM_000101.4(CYBA):c.115G>A (p.Gly39Ser) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001332188] Chr16:88648058 [GRCh38]
Chr16:88714466 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.203+8T>C single nucleotide variant not specified [RCV000176978] Chr16:88647093 [GRCh38]
Chr16:88713501 [GRCh37]
Chr16:16q24.2
benign
NM_000101.4(CYBA):c.521T>C (p.Val174Ala) single nucleotide variant not specified [RCV000179254] Chr16:88643420 [GRCh38]
Chr16:88709828 [GRCh37]
Chr16:16q24.2
benign
NM_000101.4(CYBA):c.264T>C (p.Tyr88=) single nucleotide variant not provided [RCV001310340] Chr16:88646778 [GRCh38]
Chr16:88713186 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.476C>T (p.Pro159Leu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001349450] Chr16:88643465 [GRCh38]
Chr16:88709873 [GRCh37]
Chr16:16q24.2
uncertain significance
GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3 copy number gain See cases [RCV000135659] Chr16:83988570..90081985 [GRCh38]
Chr16:84022175..90148393 [GRCh37]
Chr16:82579676..88675894 [NCBI36]
Chr16:16q23.3-24.3
likely pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3 copy number gain See cases [RCV000136898] Chr16:80946659..90081985 [GRCh38]
Chr16:80980556..90148393 [GRCh37]
Chr16:79538057..88675894 [NCBI36]
Chr16:16q23.2-24.3
pathogenic|likely pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 copy number gain See cases [RCV000137495] Chr16:70749398..90096995 [GRCh38]
Chr16:70783301..90163403 [GRCh37]
Chr16:69340802..88690904 [NCBI36]
Chr16:16q22.1-24.3
pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3 copy number gain See cases [RCV000138161] Chr16:87848216..90096995 [GRCh38]
Chr16:87881822..90163403 [GRCh37]
Chr16:86439323..88690904 [NCBI36]
Chr16:16q24.2-24.3
likely pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3 copy number gain See cases [RCV000137980] Chr16:83478453..89932910 [GRCh38]
Chr16:83512058..89999318 [GRCh37]
Chr16:82069559..88526819 [NCBI36]
Chr16:16q23.3-24.3
likely pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3 copy number gain See cases [RCV000139302] Chr16:75377981..90081992 [GRCh38]
Chr16:75411879..90148400 [GRCh37]
Chr16:73969380..88675901 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3 copy number gain See cases [RCV000139658] Chr16:85552976..90096995 [GRCh38]
Chr16:85586582..90163403 [GRCh37]
Chr16:84144083..88690904 [NCBI36]
Chr16:16q24.1-24.3
pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3 copy number gain See cases [RCV000141128] Chr16:80717291..90096662 [GRCh38]
Chr16:80751188..90163070 [GRCh37]
Chr16:79308689..88690571 [NCBI36]
Chr16:16q23.2-24.3
pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3 copy number gain See cases [RCV000141700] Chr16:76336203..90088654 [GRCh38]
Chr16:76370100..90155062 [GRCh37]
Chr16:74927601..88682563 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3 copy number gain See cases [RCV000142698] Chr16:80067315..90057871 [GRCh38]
Chr16:80101212..90124279 [GRCh37]
Chr16:78658713..88651780 [NCBI36]
Chr16:16q23.2-24.3
pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3
pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1 copy number loss See cases [RCV000143624] Chr16:86950106..89335814 [GRCh38]
Chr16:86983712..89402222 [GRCh37]
Chr16:85541213..87929723 [NCBI36]
Chr16:16q24.1-24.3
pathogenic
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3 copy number gain See cases [RCV000240108] Chr16:74872514..90274440 [GRCh37]
Chr16:16q23.1-24.3
pathogenic
t(5;16)(p15.31;q23.1) translocation not provided [RCV000203391] Chr5:1..8180513 [GRCh37]
Chr16:76935310..90354753 [GRCh37]
Chr5:5p15.33-15.31
Chr16:16q23.1-24.3
likely pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258442] Chr16:88556191..89557911 [GRCh37]
Chr16:16q24.2-24.3
pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258457] Chr16:88630607..89607742 [GRCh37]
Chr16:16q24.2-24.3
pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258180] Chr16:88230961..89363602 [GRCh37]
Chr16:16q24.2-24.3
pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258201] Chr16:88666177..89472627 [GRCh37]
Chr16:16q24.2-24.3
pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258213] Chr16:88165980..88914268 [GRCh37]
Chr16:16q24.2-24.3
pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258230] Chr16:87183661..89520803 [GRCh37]
Chr16:16q24.2-24.3
pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258283] Chr16:88643461..89611494 [GRCh37]
Chr16:16q24.2-24.3
pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258311] Chr16:88230760..89363742 [GRCh37]
Chr16:16q24.2-24.3
pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258380] Chr16:87340135..89335428 [GRCh37]
Chr16:16q24.2-24.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Ductal breast carcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3
uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 copy number loss Ductal breast carcinoma [RCV000207182] Chr16:72107834..90142285 [GRCh37]
Chr16:16q22.2-24.3
uncertain significance
Single allele complex Ductal breast carcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3
uncertain significance
NM_000101.4(CYBA):c.179A>C (p.Lys60Thr) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000558236]|not provided [RCV001310341]|not specified [RCV000239262] Chr16:88647125 [GRCh38]
Chr16:88713533 [GRCh37]
Chr16:16q24.2
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 16q24.2-24.3(chr16:87687199-89304429)x3 copy number gain See cases [RCV000240062] Chr16:87687199..89304429 [GRCh37]
Chr16:16q24.2-24.3
uncertain significance
NM_000101.4(CYBA):c.381T>C (p.Arg127=) single nucleotide variant Chronic granulomatous disease [RCV001271455]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000548261]|not specified [RCV000246091] Chr16:88643560 [GRCh38]
Chr16:88709968 [GRCh37]
Chr16:16q24.2
benign
NM_000101.4(CYBA):c.237G>C (p.Leu79=) single nucleotide variant Chronic granulomatous disease [RCV001274002]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000534259]|not specified [RCV000254035] Chr16:88646805 [GRCh38]
Chr16:88713213 [GRCh37]
Chr16:16q24.2
benign
NM_000101.4(CYBA):c.246del (p.Phe83fs) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000757945] Chr16:88646796 [GRCh38]
Chr16:88713204 [GRCh37]
Chr16:16q24.2
pathogenic
GRCh37/hg19 16q24.2-24.3(chr16:88601532-89713753)x3 copy number gain See cases [RCV000240352] Chr16:88601532..89713753 [GRCh37]
Chr16:16q24.2-24.3
uncertain significance
NM_000101.4(CYBA):c.139G>A (p.Val47Met) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001372266]|not provided [RCV000346878] Chr16:88647165 [GRCh38]
Chr16:88713573 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.204-4C>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001087533]|not provided [RCV000294209] Chr16:88646842 [GRCh38]
Chr16:88713250 [GRCh37]
Chr16:16q24.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000101.4(CYBA):c.403G>A (p.Glu135Lys) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001080551]|not provided [RCV000766493]|not specified [RCV000294954] Chr16:88643538 [GRCh38]
Chr16:88709946 [GRCh37]
Chr16:16q24.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000101.4(CYBA):c.480G>A (p.Pro160=) single nucleotide variant Chronic granulomatous disease [RCV001271453]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000536141]|not specified [RCV000365802] Chr16:88643461 [GRCh38]
Chr16:88709869 [GRCh37]
Chr16:16q24.2
benign
NM_000101.4(CYBA):c.415C>T (p.Arg139Trp) single nucleotide variant Chronic granulomatous disease [RCV001277893] Chr16:88643526 [GRCh38]
Chr16:88709934 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.273C>T (p.Ala91=) single nucleotide variant Chronic granulomatous disease [RCV001277894] Chr16:88646769 [GRCh38]
Chr16:88713177 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.531G>A (p.Gly177=) single nucleotide variant Chronic granulomatous disease [RCV001277888]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001401484] Chr16:88643410 [GRCh38]
Chr16:88709818 [GRCh37]
Chr16:16q24.2
likely benign|uncertain significance
NM_000101.4(CYBA):c.135G>A (p.Ala45=) single nucleotide variant Chronic granulomatous disease [RCV001277896] Chr16:88647169 [GRCh38]
Chr16:88713577 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.-6G>C single nucleotide variant Chronic granulomatous disease [RCV001277897] Chr16:88651019 [GRCh38]
Chr16:88717427 [GRCh37]
Chr16:16q24.2
uncertain significance
Single allele duplication not specified [RCV000591675] Chr16:88709820..88709822 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_000101.4(CYBA):c.415del (p.Arg139fs) deletion not provided [RCV000731967] Chr16:88643526 [GRCh38]
Chr16:88709934 [GRCh37]
Chr16:16q24.2
pathogenic
NM_000101.4(CYBA):c.288-3_300del deletion not provided [RCV000728607] Chr16:88646185..88646200 [GRCh38]
Chr16:88712593..88712608 [GRCh37]
Chr16:16q24.2
likely pathogenic
NM_000101.4(CYBA):c.384C>T (p.Gly128=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001241945]|not provided [RCV000734389] Chr16:88643557 [GRCh38]
Chr16:88709965 [GRCh37]
Chr16:16q24.2
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_000101.4(CYBA):c.524CGG[3] (p.Ala176dup) microsatellite Chronic granulomatous disease [RCV001271479]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000642285]|not provided [RCV000726743]|not specified [RCV000478120] Chr16:88643411..88643412 [GRCh38]
Chr16:88709819..88709820 [GRCh37]
Chr16:16q24.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:87219866-89561087)x1 copy number loss not provided [RCV000509325] Chr16:87219866..89561087 [GRCh37]
Chr16:16q24.2-24.3
not provided
GRCh37/hg19 16q24.2-24.3(chr16:88104077-88958038)x3 copy number gain See cases [RCV000510568] Chr16:88104077..88958038 [GRCh37]
Chr16:16q24.2-24.3
likely benign
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88116155-89524926)x1 copy number loss See cases [RCV000511455] Chr16:88116155..89524926 [GRCh37]
Chr16:16q24.2-24.3
pathogenic
GRCh37/hg19 16q24.2-24.3(chr16:88445490-89319419)x3 copy number gain See cases [RCV000511531] Chr16:88445490..89319419 [GRCh37]
Chr16:16q24.2-24.3
uncertain significance
GRCh37/hg19 16q24.1-24.3(chr16:84937273-89836905)x4 copy number gain See cases [RCV000511606] Chr16:84937273..89836905 [GRCh37]
Chr16:16q24.1-24.3
likely pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss PARP Inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
NM_000101.3(CYBA):c.-70G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000672168] Chr16:88651083 [GRCh38]
Chr16:88717491 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.203+5G>A single nucleotide variant Chronic granulomatous disease [RCV001271488]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000642287] Chr16:88647096 [GRCh38]
Chr16:88713504 [GRCh37]
Chr16:16q24.2
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_000101.4(CYBA):c.36= (p.Glu12=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000642290] Chr16:88650978 [GRCh38]
Chr16:88717386 [GRCh37]
Chr16:16q24.2
benign
NM_000101.4(CYBA):c.173A>G (p.Lys58Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000642286]|not provided [RCV000731902] Chr16:88647131 [GRCh38]
Chr16:88713539 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.294G>A (p.Ser98=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000642291] Chr16:88646191 [GRCh38]
Chr16:88712599 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.287+10C>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000642293] Chr16:88646745 [GRCh38]
Chr16:88713153 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.274G>A (p.Val92Ile) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000559735] Chr16:88646768 [GRCh38]
Chr16:88713176 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.491G>A (p.Arg164His) single nucleotide variant Chronic granulomatous disease [RCV001271452]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001243977]|not provided [RCV000524070] Chr16:88643450 [GRCh38]
Chr16:88709858 [GRCh37]
Chr16:16q24.2
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_000101.4(CYBA):c.370-5C>T single nucleotide variant Chronic granulomatous disease [RCV001271485]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000535767] Chr16:88643576 [GRCh38]
Chr16:88709984 [GRCh37]
Chr16:16q24.2
uncertain significance
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3
pathogenic
GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3 copy number gain See cases [RCV000512440] Chr16:85838574..90155062 [GRCh37]
Chr16:16q24.1-24.3
pathogenic
GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3 copy number gain See cases [RCV000512468] Chr16:83001540..90155062 [GRCh37]
Chr16:16q23.3-24.3
likely pathogenic
NM_000101.4(CYBA):c.549C>G (p.Pro183=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000642292] Chr16:88643392 [GRCh38]
Chr16:88709800 [GRCh37]
Chr16:16q24.2
likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss PARP Inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
Single allele deletion not provided [RCV000677910] Chr16:86890893..89398630 [GRCh37]
Chr16:16q24.1-24.3
pathogenic
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 copy number gain not provided [RCV000683831] Chr16:72515938..90155062 [GRCh37]
Chr16:16q22.2-24.3
pathogenic
GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3 copy number gain not provided [RCV000683845] Chr16:79400436..90155062 [GRCh37]
Chr16:16q23.2-24.3
pathogenic
NM_000101.4(CYBA):c.166C>T (p.Arg56Trp) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000687363] Chr16:88647138 [GRCh38]
Chr16:88713546 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.395C>T (p.Thr132Met) single nucleotide variant Chronic granulomatous disease [RCV001271484]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000687473] Chr16:88643546 [GRCh38]
Chr16:88709954 [GRCh37]
Chr16:16q24.2
uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88317240-89079407)x3 copy number gain not provided [RCV000709990] Chr16:88317240..89079407 [GRCh37]
Chr16:16q24.2-24.3
not provided
NM_000101.4(CYBA):c.193A>G (p.Met65Val) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000695756] Chr16:88647111 [GRCh38]
Chr16:88713519 [GRCh37]
Chr16:16q24.2
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_000101.4(CYBA):c.567G>A (p.Pro189=) single nucleotide variant Chronic granulomatous disease [RCV001271478]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001065485] Chr16:88643374 [GRCh38]
Chr16:88709782 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.288-15C>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000757944] Chr16:88646212 [GRCh38]
Chr16:88712620 [GRCh37]
Chr16:16q24.2
pathogenic
GRCh37/hg19 16q24.3(chr16:88713533-88799238)x1 copy number loss not provided [RCV000751821] Chr16:88713533..88799238 [GRCh37]
Chr16:16q24.3
benign
NM_000101.4(CYBA):c.483C>T (p.Ala161=) single nucleotide variant Chronic granulomatous disease [RCV001271481]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000943426] Chr16:88643458 [GRCh38]
Chr16:88709866 [GRCh37]
Chr16:16q24.2
likely benign|uncertain significance
NM_000101.4(CYBA):c.63C>T (p.Leu21=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000943582] Chr16:88648110 [GRCh38]
Chr16:88714518 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.287+9C>A single nucleotide variant not provided [RCV000942375] Chr16:88646746 [GRCh38]
Chr16:88713154 [GRCh37]
Chr16:16q24.2
likely benign
GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381) copy number gain not provided [RCV000767619] Chr16:82761333..90055381 [GRCh37]
Chr16:16q23.3-24.3
pathogenic
NM_000101.4(CYBA):c.6G>A (p.Gly2=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000928074] Chr16:88651008 [GRCh38]
Chr16:88717416 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.468G>C (p.Pro156=) single nucleotide variant Chronic granulomatous disease [RCV001277891]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001447995]|not provided [RCV000976383] Chr16:88643473 [GRCh38]
Chr16:88709881 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.59-5C>T single nucleotide variant Chronic granulomatous disease [RCV001271490]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000937548] Chr16:88648119 [GRCh38]
Chr16:88714527 [GRCh37]
Chr16:16q24.2
likely benign|uncertain significance
NM_000101.4(CYBA):c.405G>A (p.Glu135=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000941819] Chr16:88643536 [GRCh38]
Chr16:88709944 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.203+9C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001434149]|not provided [RCV000942084] Chr16:88647092 [GRCh38]
Chr16:88713500 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.525G>A (p.Ala175=) single nucleotide variant not provided [RCV000943620] Chr16:88643416 [GRCh38]
Chr16:88709824 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.291C>G (p.Leu97=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000941289] Chr16:88646194 [GRCh38]
Chr16:88712602 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.241G>C (p.Gly81Arg) single nucleotide variant Chronic granulomatous disease [RCV001271458]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000822525] Chr16:88646801 [GRCh38]
Chr16:88713209 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.128+5C>T single nucleotide variant Chronic granulomatous disease [RCV001274004]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000814249] Chr16:88648040 [GRCh38]
Chr16:88714448 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.539C>G (p.Pro180Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000804858] Chr16:88643402 [GRCh38]
Chr16:88709810 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.199C>T (p.Arg67Cys) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000799757] Chr16:88647105 [GRCh38]
Chr16:88713513 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.475C>T (p.Pro159Ser) single nucleotide variant Chronic granulomatous disease [RCV001271482]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000791637] Chr16:88643466 [GRCh38]
Chr16:88709874 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.58+4_58+7del microsatellite Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000796683] Chr16:88650949..88650952 [GRCh38]
Chr16:88717357..88717360 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.166del (p.Arg56fs) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000818649] Chr16:88647138 [GRCh38]
Chr16:88713546 [GRCh37]
Chr16:16q24.2
pathogenic
NM_000101.4(CYBA):c.527C>T (p.Ala176Val) single nucleotide variant Chronic granulomatous disease [RCV001271451]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000795755] Chr16:88643414 [GRCh38]
Chr16:88709822 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.422G>A (p.Arg141Gln) single nucleotide variant Chronic granulomatous disease [RCV001271483]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000810008] Chr16:88643519 [GRCh38]
Chr16:88709927 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.421C>T (p.Arg141Trp) single nucleotide variant Chronic granulomatous disease [RCV001271454]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000822506] Chr16:88643520 [GRCh38]
Chr16:88709928 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.128+5C>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000806989] Chr16:88648040 [GRCh38]
Chr16:88714448 [GRCh37]
Chr16:16q24.2
uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88697092-88791148)x1 copy number loss not provided [RCV000846887] Chr16:88697092..88791148 [GRCh37]
Chr16:16q24.2-24.3
uncertain significance
NC_000016.9:g.(?_88709737)_(88718353_?)dup duplication Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000801355] Chr16:88643329..88651945 [GRCh38]
Chr16:88709737..88718353 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.21del (p.Met8fs) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000805167] Chr16:88650993 [GRCh38]
Chr16:88717401 [GRCh37]
Chr16:16q24.2
pathogenic
NM_000101.4(CYBA):c.261C>G (p.Tyr87Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001384756]|not provided [RCV000788440] Chr16:88646781 [GRCh38]
Chr16:88713189 [GRCh37]
Chr16:16q24.2
pathogenic
NM_000101.4(CYBA):c.293C>T (p.Ser98Leu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000822936] Chr16:88646192 [GRCh38]
Chr16:88712600 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.350C>T (p.Ala117Val) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000811090] Chr16:88646135 [GRCh38]
Chr16:88712543 [GRCh37]
Chr16:16q24.2
uncertain significance
NC_000016.10:g.(?_88646106)_(88647185_?)del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001031626] Chr16:88712514..88713593 [GRCh37]
Chr16:16q24.3
likely pathogenic
GRCh37/hg19 16q24.2-24.3(chr16:88453448-89569215)x1 copy number loss not provided [RCV000847422] Chr16:88453448..89569215 [GRCh37]
Chr16:16q24.2-24.3
pathogenic
NM_000101.4(CYBA):c.59-4G>A single nucleotide variant Chronic granulomatous disease [RCV001274007]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000891589] Chr16:88648118 [GRCh38]
Chr16:88714526 [GRCh37]
Chr16:16q24.2
benign
GRCh37/hg19 16q24.2-24.3(chr16:87848902-88809407)x3 copy number gain not provided [RCV000849210] Chr16:87848902..88809407 [GRCh37]
Chr16:16q24.2-24.3
uncertain significance
NM_000101.4(CYBA):c.287+2T>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001240485] Chr16:88646753 [GRCh38]
Chr16:88713161 [GRCh37]
Chr16:16q24.2
likely pathogenic
NM_000101.4(CYBA):c.261C>A (p.Tyr87Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001225987] Chr16:88646781 [GRCh38]
Chr16:88713189 [GRCh37]
Chr16:16q24.2
pathogenic
NM_000101.4(CYBA):c.402C>G (p.Ile134Met) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001242836] Chr16:88643539 [GRCh38]
Chr16:88709947 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.288-3del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001222041] Chr16:88646200 [GRCh38]
Chr16:88712608 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.369+3G>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001232642] Chr16:88646113 [GRCh38]
Chr16:88712521 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.226G>A (p.Val76Met) single nucleotide variant Chronic granulomatous disease [RCV001277895]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001027779] Chr16:88646816 [GRCh38]
Chr16:88713224 [GRCh37]
Chr16:16q24.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000101.4(CYBA):c.243G>A (p.Gly81=) single nucleotide variant Chronic granulomatous disease [RCV001271487]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000930997] Chr16:88646799 [GRCh38]
Chr16:88713207 [GRCh37]
Chr16:16q24.2
likely benign|uncertain significance
NM_000101.4(CYBA):c.576C>T (p.Asp192=) single nucleotide variant Chronic granulomatous disease, X-linked [RCV001271477]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000940801] Chr16:88643365 [GRCh38]
Chr16:88709773 [GRCh37]
Chr16:16q24.2
likely benign|uncertain significance
NM_000101.4(CYBA):c.333C>T (p.Thr111=) single nucleotide variant Chronic granulomatous disease [RCV001271486]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000941519] Chr16:88646152 [GRCh38]
Chr16:88712560 [GRCh37]
Chr16:16q24.2
likely benign|uncertain significance
NM_000101.4(CYBA):c.69C>T (p.Thr23=) single nucleotide variant Chronic granulomatous disease [RCV001271489]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000909443] Chr16:88648104 [GRCh38]
Chr16:88714512 [GRCh37]
Chr16:16q24.2
likely benign|uncertain significance
NM_000101.4(CYBA):c.303C>T (p.Ala101=) single nucleotide variant not provided [RCV000980742] Chr16:88646182 [GRCh38]
Chr16:88712590 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.426G>A (p.Pro142=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000932059] Chr16:88643515 [GRCh38]
Chr16:88709923 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.495G>A (p.Lys165=) single nucleotide variant not provided [RCV000932161] Chr16:88643446 [GRCh38]
Chr16:88709854 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.479C>G (p.Pro160Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001071110] Chr16:88643462 [GRCh38]
Chr16:88709870 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.452C>T (p.Pro151Leu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001222177] Chr16:88643489 [GRCh38]
Chr16:88709897 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.583G>A (p.Val195Met) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001231971] Chr16:88643358 [GRCh38]
Chr16:88709766 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.539C>T (p.Pro180Leu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001205870] Chr16:88643402 [GRCh38]
Chr16:88709810 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.134C>T (p.Ala45Val) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001243784] Chr16:88647170 [GRCh38]
Chr16:88713578 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.223G>A (p.Ala75Thr) single nucleotide variant Chronic granulomatous disease [RCV001274003]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001047762] Chr16:88646819 [GRCh38]
Chr16:88713227 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.418G>A (p.Glu140Lys) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001241615] Chr16:88643523 [GRCh38]
Chr16:88709931 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.204-2A>G single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001225583] Chr16:88646840 [GRCh38]
Chr16:88713248 [GRCh37]
Chr16:16q24.2
pathogenic
NM_000101.4(CYBA):c.189C>T (p.Ser63=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000935660] Chr16:88647115 [GRCh38]
Chr16:88713523 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.577G>A (p.Glu193Lys) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001047257] Chr16:88643364 [GRCh38]
Chr16:88709772 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.171del (p.Lys58fs) deletion not provided [RCV001093038] Chr16:88647133 [GRCh38]
Chr16:88713541 [GRCh37]
Chr16:16q24.2
pathogenic
NM_000101.4(CYBA):c.26G>A (p.Trp9Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001069145] Chr16:88650988 [GRCh38]
Chr16:88717396 [GRCh37]
Chr16:16q24.2
pathogenic
NC_000016.10:g.(?_88643329)_(88648134_?)del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001033676] Chr16:88709737..88714542 [GRCh37]
Chr16:16q24.3
pathogenic
NM_000101.4(CYBA):c.203+102_404del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001048168] Chr16:88643537..88646999 [GRCh38]
Chr16:88709945..88713407 [GRCh37]
Chr16:16q24.2
likely pathogenic
NC_000016.10:g.(?_88643329)_(88643581_?)del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001031305] Chr16:88709737..88709989 [GRCh37]
Chr16:16q24.3
pathogenic
NM_000101.4(CYBA):c.574G>C (p.Asp192His) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001219690] Chr16:88643367 [GRCh38]
Chr16:88709775 [GRCh37]
Chr16:16q24.2
uncertain significance
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3
not provided
NM_000101.4(CYBA):c.211A>C (p.Lys71Gln) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001217284] Chr16:88646831 [GRCh38]
Chr16:88713239 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.304G>A (p.Gly102Ser) single nucleotide variant Chronic granulomatous disease [RCV001271456]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001057912] Chr16:88646181 [GRCh38]
Chr16:88712589 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.94C>T (p.Arg32Cys) single nucleotide variant Chronic granulomatous disease [RCV001274005]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001052326] Chr16:88648079 [GRCh38]
Chr16:88714487 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.257A>G (p.Asn86Ser) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001204095] Chr16:88646785 [GRCh38]
Chr16:88713193 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.295del (p.Val99fs) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001211585] Chr16:88646190 [GRCh38]
Chr16:88712598 [GRCh37]
Chr16:16q24.2
likely pathogenic
NM_000101.4(CYBA):c.505G>A (p.Glu169Lys) single nucleotide variant Chronic granulomatous disease [RCV001271480]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001056283] Chr16:88643436 [GRCh38]
Chr16:88709844 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.486G>C (p.Glu162Asp) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001063808] Chr16:88643455 [GRCh38]
Chr16:88709863 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.448C>G (p.Gln150Glu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001349897] Chr16:88643493 [GRCh38]
Chr16:88709901 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.393G>A (p.Trp131Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001335108] Chr16:88643548 [GRCh38]
Chr16:88709956 [GRCh37]
Chr16:16q24.2
pathogenic
NM_000101.4(CYBA):c.422_427del (p.Arg141_Pro142del) deletion Chronic granulomatous disease [RCV001277892] Chr16:88643514..88643519 [GRCh38]
Chr16:88709922..88709927 [GRCh37]
Chr16:16q24.2
uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88222732-90155062)x3 copy number gain not provided [RCV001258663] Chr16:88222732..90155062 [GRCh37]
Chr16:16q24.2-24.3
uncertain significance
NM_000101.4(CYBA):c.36A>C (p.Glu12Asp) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001296139] Chr16:88650978 [GRCh38]
Chr16:88717386 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.408C>G (p.Pro136=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001391988] Chr16:88643533 [GRCh38]
Chr16:88709941 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.168G>A (p.Arg56=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001422789] Chr16:88647136 [GRCh38]
Chr16:88713544 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.135G>C (p.Ala45=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001392446] Chr16:88647169 [GRCh38]
Chr16:88713577 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.249T>C (p.Phe83=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001392769] Chr16:88646793 [GRCh38]
Chr16:88713201 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.345C>T (p.Ala115=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001392317] Chr16:88646140 [GRCh38]
Chr16:88712548 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.553G>A (p.Val185Ile) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001308608] Chr16:88643388 [GRCh38]
Chr16:88709796 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.370-3C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001321566] Chr16:88643574 [GRCh38]
Chr16:88709982 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.61C>T (p.Leu21Phe) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001346716] Chr16:88648112 [GRCh38]
Chr16:88714520 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.425C>T (p.Pro142Leu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001301746] Chr16:88643516 [GRCh38]
Chr16:88709924 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.516T>G (p.Ala172=) single nucleotide variant Chronic granulomatous disease [RCV001277889] Chr16:88643425 [GRCh38]
Chr16:88709833 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.515C>G (p.Ala172Gly) single nucleotide variant Chronic granulomatous disease [RCV001277890] Chr16:88643426 [GRCh38]
Chr16:88709834 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.379C>A (p.Arg127Ser) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001346153] Chr16:88643562 [GRCh38]
Chr16:88709970 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.95G>T (p.Arg32Leu) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001321013] Chr16:88648078 [GRCh38]
Chr16:88714486 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.314T>G (p.Leu105Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001363658] Chr16:88646171 [GRCh38]
Chr16:88712579 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.166C>G (p.Arg56Gly) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001373080] Chr16:88647138 [GRCh38]
Chr16:88713546 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.95G>A (p.Arg32His) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001297392] Chr16:88648078 [GRCh38]
Chr16:88714486 [GRCh37]
Chr16:16q24.2
uncertain significance
NM_000101.4(CYBA):c.564C>T (p.Ile188=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001421183] Chr16:88643377 [GRCh38]
Chr16:88709785 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.237G>A (p.Leu79=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001421401] Chr16:88646805 [GRCh38]
Chr16:88713213 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.288-9G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001416847] Chr16:88646206 [GRCh38]
Chr16:88712614 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.128+2T>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001377848] Chr16:88648043 [GRCh38]
Chr16:88714451 [GRCh37]
Chr16:16q24.2
likely pathogenic
NM_000101.4(CYBA):c.128+10del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001399888] Chr16:88648035 [GRCh38]
Chr16:88714443 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.432C>T (p.Ile144=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001417551] Chr16:88643509 [GRCh38]
Chr16:88709917 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.288-9G>C single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001439061] Chr16:88646206 [GRCh38]
Chr16:88712614 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.151C>T (p.Leu51=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001403449] Chr16:88647153 [GRCh38]
Chr16:88713561 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.468G>A (p.Pro156=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001431988] Chr16:88643473 [GRCh38]
Chr16:88709881 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.370-7C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001409252] Chr16:88643578 [GRCh38]
Chr16:88709986 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.370-4G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001409587] Chr16:88643575 [GRCh38]
Chr16:88709983 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.225C>T (p.Ala75=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001428711] Chr16:88646817 [GRCh38]
Chr16:88713225 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.102C>G (p.Thr34=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001445967] Chr16:88648071 [GRCh38]
Chr16:88714479 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.471G>A (p.Pro157=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001407004] Chr16:88643470 [GRCh38]
Chr16:88709878 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.354C>T (p.Ser118=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001441311] Chr16:88646131 [GRCh38]
Chr16:88712539 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.498G>A (p.Lys166=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001439903] Chr16:88643443 [GRCh38]
Chr16:88709851 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.21C>T (p.Ala7=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001449518] Chr16:88650993 [GRCh38]
Chr16:88717401 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.453G>A (p.Pro151=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001447113] Chr16:88643488 [GRCh38]
Chr16:88709896 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.111C>G (p.Tyr37Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001383797] Chr16:88648062 [GRCh38]
Chr16:88714470 [GRCh37]
Chr16:16q24.2
pathogenic
NC_000016.9:g.(?_88709737)_(89220635_?)del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001388209] Chr16:88709737..89220635 [GRCh37]
Chr16:16q24.3
pathogenic
NC_000016.9:g.(?_88713499)_(88714532_?)del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001388210] Chr16:88713499..88714532 [GRCh37]
Chr16:16q24.3
pathogenic
NM_000101.4(CYBA):c.396G>T (p.Thr132=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001437826] Chr16:88643545 [GRCh38]
Chr16:88709953 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.156G>C (p.Leu52=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001410626] Chr16:88647148 [GRCh38]
Chr16:88713556 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.566C>G (p.Pro189Arg) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001410986] Chr16:88643375 [GRCh38]
Chr16:88709783 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.210G>A (p.Gln70=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001411083] Chr16:88646832 [GRCh38]
Chr16:88713240 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.351G>A (p.Ala117=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001419442] Chr16:88646134 [GRCh38]
Chr16:88712542 [GRCh37]
Chr16:16q24.2
likely benign
NC_000016.9:g.(?_88709946_88713408del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001377346]   likely pathogenic
NM_000101.4(CYBA):c.561C>T (p.Pro187=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001448060] Chr16:88643380 [GRCh38]
Chr16:88709788 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.54_58+20del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001379990] Chr16:88650936..88650960 [GRCh38]
Chr16:88717344..88717368 [GRCh37]
Chr16:16q24.2
likely pathogenic
NM_000101.4(CYBA):c.345del (p.Ile116fs) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001377396] Chr16:88646140 [GRCh38]
Chr16:88712548 [GRCh37]
Chr16:16q24.2
likely pathogenic
NM_000101.4(CYBA):c.141G>A (p.Val47=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001400430] Chr16:88647163 [GRCh38]
Chr16:88713571 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.231G>A (p.Val77=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001428513] Chr16:88646811 [GRCh38]
Chr16:88713219 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.203+12_203+14del microsatellite Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001448437] Chr16:88647087..88647089 [GRCh38]
Chr16:88713495..88713497 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.204-2del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001388520] Chr16:88646840 [GRCh38]
Chr16:88713248 [GRCh37]
Chr16:16q24.2
pathogenic
NM_000101.4(CYBA):c.287+2_287+3del microsatellite Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001378333] Chr16:88646752..88646753 [GRCh38]
Chr16:88713160..88713161 [GRCh37]
Chr16:16q24.2
likely pathogenic
NM_000101.4(CYBA):c.166C>A (p.Arg56=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001443171] Chr16:88647138 [GRCh38]
Chr16:88713546 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.540G>A (p.Pro180=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001415777] Chr16:88643401 [GRCh38]
Chr16:88709809 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.375T>C (p.Ala125=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001393149] Chr16:88643566 [GRCh38]
Chr16:88709974 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.183G>A (p.Lys61=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001400476] Chr16:88647121 [GRCh38]
Chr16:88713529 [GRCh37]
Chr16:16q24.2
likely benign
NM_000101.4(CYBA):c.129-1G>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001379559] Chr16:88647176 [GRCh38]
Chr16:88713584 [GRCh37]
Chr16:16q24.2
likely pathogenic
NM_000101.4(CYBA):c.369+1G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001377368] Chr16:88646115 [GRCh38]
Chr16:88712523 [GRCh37]
Chr16:16q24.2
likely pathogenic
NM_000101.4(CYBA):c.166dup (p.Arg56fs) duplication Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001384757] Chr16:88647137..88647138 [GRCh38]
Chr16:88713545..88713546 [GRCh37]
Chr16:16q24.2
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2577 AgrOrtholog
COSMIC CYBA COSMIC
Ensembl Genes ENSG00000051523 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000261623 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000454951 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000455506 UniProtKB/TrEMBL
  ENSP00000455537 UniProtKB/TrEMBL
  ENSP00000456079 UniProtKB/TrEMBL
  ENSP00000457060 UniProtKB/TrEMBL
Ensembl Transcript ENST00000261623 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000565588 UniProtKB/TrEMBL
  ENST00000566229 UniProtKB/TrEMBL
  ENST00000567174 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000568278 UniProtKB/TrEMBL
  ENST00000569359 UniProtKB/TrEMBL
GTEx ENSG00000051523 GTEx
HGNC ID HGNC:2577 ENTREZGENE
Human Proteome Map CYBA Human Proteome Map
InterPro Cyt_b558_asu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1535 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1535 ENTREZGENE
OMIM 233690 OMIM
  608508 OMIM
PANTHER PTHR15168 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cytochrom_B558a UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27075 PharmGKB
PIRSF Cytochr_b558a UniProtKB/Swiss-Prot
UniProt B4DT46 ENTREZGENE, UniProtKB/TrEMBL
  CY24A_HUMAN UniProtKB/Swiss-Prot
  H3BNP7 ENTREZGENE, UniProtKB/TrEMBL
  H3BPX1_HUMAN UniProtKB/TrEMBL
  H3BPZ7_HUMAN UniProtKB/TrEMBL
  H3BR52_HUMAN UniProtKB/TrEMBL
  H3BT77_HUMAN UniProtKB/TrEMBL
  P13498 ENTREZGENE
  Q86SL0_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q14090 UniProtKB/Swiss-Prot
  Q9BR72 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-28 CYBA  cytochrome b-245 alpha chain    cytochrome b-245, alpha polypeptide  Symbol and/or name change 5135510 APPROVED
2011-08-16 CYBA  cytochrome b-245, alpha polypeptide  CYBA  cytochrome b-245, alpha polypeptide  Symbol and/or name change 5135510 APPROVED