UGT1A3 (UDP glucuronosyltransferase family 1 member A3) - Rat Genome Database

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Gene: UGT1A3 (UDP glucuronosyltransferase family 1 member A3) Homo sapiens
Analyze
Symbol: UGT1A3
Name: UDP glucuronosyltransferase family 1 member A3
RGD ID: 1352957
HGNC Page HGNC
Description: Enables several functions, including glucuronosyltransferase activity; protein dimerization activity; and retinoic acid binding activity. Involved in several processes, including bile acid secretion; cellular glucuronidation; and estrogen metabolic process. Located in endoplasmic reticulum.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: UDP glucuronosyltransferase 1 family, polypeptide A3; UDP glucuronosyltransferase 1A3; UDP glycosyltransferase 1 family, polypeptide A3; UDP-glucuronosyltransferase 1 family polypeptide A3s; UDP-glucuronosyltransferase 1-3; UDP-glucuronosyltransferase 1-C; UDP-glucuronosyltransferase 1A; UDP-glucuronosyltransferase 1A3; UDPGT; UDPGT 1-3; UGT-1C; UGT1*3; UGT1-03; UGT1.3; UGT1A3S; UGT1C
RGD Orthologs
Mouse
Rat
Pig
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 Ensembl2233,729,042 - 233,773,300 (+)EnsemblGRCh38hg38GRCh38
GRCh382233,729,042 - 233,773,300 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372234,637,688 - 234,681,946 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362234,302,512 - 234,346,684 (+)NCBINCBI36hg18NCBI36
Build 342234,419,772 - 234,463,945NCBI
Celera2228,358,392 - 228,402,577 (+)NCBI
Cytogenetic Map2q37.1NCBI
HuRef2226,437,616 - 226,481,779 (+)NCBIHuRef
CHM1_12234,643,587 - 234,682,899 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(5Z,8Z,11Z,13E)-15-HETE  (EXP)
(S)-nicotine  (EXP)
1-Hydroxypyrene  (EXP)
17beta-estradiol  (EXP,ISO)
1H-indene  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrotoluene  (ISO)
2,8-bis-Trifluoromethyl-4-quinoline carboxylic acid  (EXP)
2-amino-4,6-dinitrotoluene  (ISO)
2-hydroxy-17beta-estradiol  (EXP)
2-hydroxyestrone  (EXP)
2-methoxy-17beta-estradiol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3-methylcholanthrene  (EXP)
3-phenylpropionic acid  (EXP)
4-amino-2,6-dinitrotoluene  (ISO)
4-hydroxyestrone  (EXP)
4-methylumbelliferone  (EXP)
4-methylumbelliferone beta-D-glucuronide  (EXP)
4-nitrophenol  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (EXP)
9-cis-retinoic acid  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
Afloqualone  (EXP)
amentoflavone  (EXP)
ammonium chloride  (ISO)
androsterone  (EXP)
anthracene-1,8,9-triol  (EXP)
arachidonic acid  (EXP)
Aroclor 1254  (EXP)
atrazine  (ISO)
belinostat  (EXP)
benoxaprofen  (EXP)
benzamidoxime  (EXP)
benzo[a]pyrene  (ISO)
beta-naphthoflavone  (EXP)
betulin  (EXP)
bilirubin IXalpha  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bropirimine  (EXP)
buta-1,3-diene  (ISO)
C.I. Natural Red 20  (EXP)
calycosin  (EXP)
cefaloridine  (ISO)
chenodeoxycholic acid  (EXP)
chlorogenic acid  (EXP)
cis-caffeic acid  (EXP)
cisplatin  (EXP)
clofibric acid  (EXP)
Cuprizon  (ISO)
decanoic acid  (EXP)
dexamethasone  (ISO)
dichloroacetic acid  (ISO)
diclofenac  (EXP)
diethylstilbestrol  (EXP)
diflunisal  (EXP)
diphenylacetic acid  (EXP)
dodecanoic acid  (EXP)
entacapone  (EXP)
estriol  (EXP)
estrone  (EXP)
etodolac  (EXP)
etoposide  (EXP)
ezetimibe  (EXP)
farnesol  (EXP)
fenofibrate  (EXP)
fenoprofen  (EXP)
ferulic acid  (EXP)
fipronil  (ISO)
flunitrazepam  (EXP)
flurbiprofen  (EXP)
furosemide  (EXP)
genistein  (EXP)
glabridin  (EXP)
glutathione  (ISO)
Grepafloxacin  (EXP)
GW 4064  (EXP)
GW 7647  (ISO)
hydratropic acid  (EXP)
ibuprofen  (EXP)
indole-3-methanol  (ISO)
indometacin  (EXP)
indoprofen  (EXP)
isoprenaline  (ISO)
isovaleric acid  (EXP)
kaempferol  (EXP)
ketoprofen  (EXP)
kojic acid  (ISO)
L-ascorbic acid  (ISO)
lamotrigine  (EXP)
lapatinib  (EXP)
Licochalcone A  (EXP)
lithocholic acid  (EXP)
luteolin  (EXP)
mefenamic acid  (EXP)
MeIQx  (EXP)
methoxychlor  (EXP)
methyl salicylate  (EXP)
mono(2-ethylhexyl) phthalate  (EXP)
morphine  (EXP)
moxifloxacin  (EXP)
Muraglitazar  (EXP)
N-hydroxy-PhIP  (EXP)
N-nitrosodiethylamine  (ISO)
naproxen  (EXP)
nicotine  (EXP)
Nor-9-carboxy-delta9-THC  (EXP)
obeticholic acid  (EXP)
ofloxacin  (EXP)
omeprazole  (EXP)
ortho-vanillin  (EXP)
osimertinib  (EXP)
paracetamol  (EXP,ISO)
perfluorodecanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
phenylbutazone  (EXP)
pimecrolimus  (EXP)
pirinixic acid  (EXP,ISO)
ponasterone A  (EXP)
pregnenolone 16alpha-carbonitrile  (EXP,ISO)
probenecid  (EXP)
pterostilbene  (EXP)
puerarin  (EXP)
pyrazinecarboxamide  (ISO)
quercetin  (EXP,ISO)
resveratrol  (EXP)
rifampicin  (EXP)
salicylic acid  (EXP)
scopoletin  (EXP)
sevoflurane  (ISO)
Shikonin  (EXP)
Sitafloxacin  (EXP)
sodium arsenite  (ISO)
spironolactone  (ISO)
sulindac  (EXP)
sulindac sulfone  (EXP)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
trans-caffeic acid  (EXP)
trans-cinnamic acid  (EXP)
trichloroethene  (ISO)
triclocarban  (EXP)
ursodeoxycholic acid  (EXP)
valproic acid  (EXP)
vanillic acid  (EXP)
vanillin  (EXP)
vitamin E  (ISO)
vorinostat  (EXP)
warfarin  (EXP)
xanthohumol  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1339448   PMID:1503396   PMID:8780690   PMID:9230212   PMID:9271343   PMID:9295054   PMID:9535849   PMID:9616184   PMID:10748067   PMID:10836148   PMID:11179432   PMID:11179460  
PMID:11434514   PMID:11465080   PMID:12639971   PMID:12695355   PMID:14570768   PMID:14672974   PMID:14986168   PMID:15047194   PMID:15057901   PMID:16738032   PMID:17179145   PMID:17558304  
PMID:18052087   PMID:18161889   PMID:18677463   PMID:18719240   PMID:19204906   PMID:19303655   PMID:19414484   PMID:19419973   PMID:19889628   PMID:19891553   PMID:19898482   PMID:19913121  
PMID:19956635   PMID:20056724   PMID:20142249   PMID:20189675   PMID:20308471   PMID:20610558   PMID:20628086   PMID:20639394   PMID:21646302   PMID:21822266   PMID:21873635   PMID:21886157  
PMID:22085899   PMID:22511988   PMID:22558097   PMID:22579593   PMID:23281178   PMID:23371916   PMID:23611809   PMID:23642732   PMID:23756265   PMID:24097068   PMID:24625756   PMID:24641623  
PMID:24816252   PMID:25246029   PMID:25743847   PMID:28443723   PMID:30889488   PMID:32498119   PMID:33658628   PMID:33961781  


Genomics

Comparative Map Data
UGT1A3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2233,729,042 - 233,773,300 (+)EnsemblGRCh38hg38GRCh38
GRCh382233,729,042 - 233,773,300 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372234,637,688 - 234,681,946 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362234,302,512 - 234,346,684 (+)NCBINCBI36hg18NCBI36
Build 342234,419,772 - 234,463,945NCBI
Celera2228,358,392 - 228,402,577 (+)NCBI
Cytogenetic Map2q37.1NCBI
HuRef2226,437,616 - 226,481,779 (+)NCBIHuRef
CHM1_12234,643,587 - 234,682,899 (+)NCBICHM1_1
Ugt1a2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39188,128,333 - 88,147,724 (+)NCBIGRCm39mm39
GRCm39 Ensembl188,128,323 - 88,146,719 (+)Ensembl
GRCm38188,200,611 - 88,220,002 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl188,200,601 - 88,218,997 (+)EnsemblGRCm38mm10GRCm38
MGSCv37190,097,186 - 90,116,577 (+)NCBIGRCm37mm9NCBIm37
MGSCv36190,031,782 - 90,050,168 (+)NCBImm8
Celera191,161,681 - 91,181,062 (+)NCBICelera
Cytogenetic Map1DNCBI
Ugt1a2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2988,791,216 - 88,808,465 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl988,713,184 - 88,808,465 (+)Ensembl
Rnor_6.0995,285,592 - 95,302,822 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl995,161,157 - 95,302,822 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0994,972,807 - 94,990,037 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4987,081,132 - 87,098,362 (+)NCBIRGSC3.4rn4RGSC3.4
Celera986,352,508 - 86,369,556 (+)NCBICelera
Cytogenetic Map9q35NCBI
UGT1A6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.115133,968,693 - 134,049,029 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215148,087,506 - 148,164,555 (+)NCBISscrofa10.2Sscrofa10.2susScr3

Position Markers
RH48302  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,678,218 - 234,678,302UniSTSGRCh37
Build 362234,342,957 - 234,343,041RGDNCBI36
Celera2228,398,850 - 228,398,934RGD
Cytogenetic Map2q37UniSTS
HuRef2226,478,052 - 226,478,136UniSTS
GeneMap99-GB4 RH Map2729.25UniSTS
GDB:511416  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,668,909 - 234,669,898UniSTSGRCh37
Build 362234,333,648 - 234,334,637RGDNCBI36
Celera2228,389,542 - 228,390,531RGD
Cytogenetic Map2q37UniSTS
HuRef2226,468,758 - 226,469,747UniSTS
ECD00911  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,636,848 - 234,637,732UniSTSGRCh37
Build 362234,301,587 - 234,302,471RGDNCBI36
Celera2228,357,467 - 228,358,351RGD
Cytogenetic Map2q37UniSTS
HuRef2226,436,691 - 226,437,575UniSTS
ECD01304  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,665,193 - 234,666,062UniSTSGRCh37
GRCh372234,653,839 - 234,654,707UniSTSGRCh37
Build 362234,318,578 - 234,319,446RGDNCBI36
Celera2228,385,810 - 228,386,679UniSTS
Celera2228,374,458 - 228,375,326RGD
Cytogenetic Map2q37UniSTS
HuRef2226,453,682 - 226,454,550UniSTS
HuRef2226,465,036 - 226,465,905UniSTS
ECD02017  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,635,974 - 234,636,818UniSTSGRCh37
Build 362234,300,713 - 234,301,557RGDNCBI36
Celera2228,356,593 - 228,357,437RGD
Cytogenetic Map2q37UniSTS
HuRef2226,435,817 - 226,436,661UniSTS
ECD02203  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,657,187 - 234,658,024UniSTSGRCh37
Build 362234,321,926 - 234,322,763RGDNCBI36
Celera2228,377,806 - 228,378,643RGD
Cytogenetic Map2q37UniSTS
HuRef2226,457,030 - 226,457,867UniSTS
ECD02295  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,656,332 - 234,657,166UniSTSGRCh37
Build 362234,321,071 - 234,321,905RGDNCBI36
Celera2228,376,951 - 228,377,785RGD
Cytogenetic Map2q37UniSTS
HuRef2226,456,175 - 226,457,009UniSTS
ECD02375  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,655,436 - 234,656,267UniSTSGRCh37
Build 362234,320,175 - 234,321,006RGDNCBI36
Celera2228,376,055 - 228,376,886RGD
Cytogenetic Map2q37UniSTS
HuRef2226,455,279 - 226,456,110UniSTS
ECD02604  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,662,685 - 234,663,508UniSTSGRCh37
Build 362234,327,424 - 234,328,247RGDNCBI36
Celera2228,383,304 - 228,384,127RGD
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2q37UniSTS
HuRef2226,462,528 - 226,463,351UniSTS
ECD02766  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,666,794 - 234,667,611UniSTSGRCh37
Build 362234,331,533 - 234,332,350RGDNCBI36
Celera2228,387,427 - 228,388,244RGD
Cytogenetic Map2q37UniSTS
HuRef2226,466,643 - 226,467,460UniSTS
ECD03385  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,672,917 - 234,673,713UniSTSGRCh37
Build 362234,337,656 - 234,338,452RGDNCBI36
Celera2228,393,550 - 228,394,346RGD
Cytogenetic Map2q37UniSTS
HuRef2226,472,766 - 226,473,562UniSTS
ECD03538  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,672,057 - 234,672,848UniSTSGRCh37
Build 362234,336,796 - 234,337,587RGDNCBI36
Celera2228,392,690 - 228,393,481RGD
Cytogenetic Map2q37UniSTS
HuRef2226,471,906 - 226,472,697UniSTS
ECD04094  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,663,568 - 234,664,342UniSTSGRCh37
GRCh372234,652,215 - 234,652,991UniSTSGRCh37
Build 362234,316,954 - 234,317,730RGDNCBI36
Celera2228,372,834 - 228,373,610RGD
Celera2228,384,187 - 228,384,961UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map2q37.1UniSTS
HuRef2226,463,411 - 226,464,185UniSTS
HuRef2226,452,058 - 226,452,834UniSTS
ECD04933  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,652,250 - 234,652,999UniSTSGRCh37
Build 362234,316,989 - 234,317,738RGDNCBI36
Celera2228,372,869 - 228,373,618RGD
Cytogenetic Map2q37UniSTS
HuRef2226,452,093 - 226,452,842UniSTS
ECD05537  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,676,398 - 234,677,130UniSTSGRCh37
Build 362234,341,137 - 234,341,869RGDNCBI36
Celera2228,397,031 - 228,397,763RGD
Cytogenetic Map2q37UniSTS
HuRef2226,476,233 - 226,476,965UniSTS
ECD05663  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,675,308 - 234,676,037UniSTSGRCh37
Build 362234,340,047 - 234,340,776RGDNCBI36
Celera2228,395,941 - 228,396,670RGD
Cytogenetic Map2q37UniSTS
HuRef2226,475,143 - 226,475,872UniSTS
ECD05707  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,662,867 - 234,663,593UniSTSGRCh37
GRCh372234,651,512 - 234,652,240UniSTSGRCh37
Build 362234,316,251 - 234,316,979RGDNCBI36
Celera2228,372,131 - 228,372,859RGD
Celera2228,383,486 - 228,384,212UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map2q37.1UniSTS
HuRef2226,462,710 - 226,463,436UniSTS
HuRef2226,451,355 - 226,452,083UniSTS
ECD06470  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,665,814 - 234,666,580UniSTSGRCh37
GRCh372234,654,456 - 234,655,163UniSTSGRCh37
Build 362234,319,195 - 234,319,902RGDNCBI36
Celera2228,386,431 - 228,387,213UniSTS
Celera2228,375,075 - 228,375,782RGD
Cytogenetic Map2q37UniSTS
HuRef2226,454,299 - 226,455,006UniSTS
HuRef2226,465,657 - 226,466,429UniSTS
ECD07800  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,665,106 - 234,665,781UniSTSGRCh37
GRCh372234,653,752 - 234,654,423UniSTSGRCh37
Build 362234,318,491 - 234,319,162RGDNCBI36
Celera2228,374,371 - 228,375,042RGD
Celera2228,385,723 - 228,386,398UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map2q37.1UniSTS
HuRef2226,464,949 - 226,465,624UniSTS
HuRef2226,453,595 - 226,454,266UniSTS
ECD08785  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,648,924 - 234,649,569UniSTSGRCh37
Build 362234,313,663 - 234,314,308RGDNCBI36
Celera2228,369,543 - 228,370,188RGD
Cytogenetic Map2q37UniSTS
HuRef2226,448,767 - 226,449,412UniSTS
ECD09161  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,669,794 - 234,670,429UniSTSGRCh37
Build 362234,334,533 - 234,335,168RGDNCBI36
Celera2228,390,427 - 228,391,062RGD
Cytogenetic Map2q37UniSTS
HuRef2226,469,643 - 226,470,278UniSTS
ECD09369  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,668,473 - 234,669,103UniSTSGRCh37
Build 362234,333,212 - 234,333,842RGDNCBI36
Celera2228,389,106 - 228,389,736RGD
Cytogenetic Map2q37UniSTS
HuRef2226,468,322 - 226,468,952UniSTS
ECD10107  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,669,163 - 234,669,773UniSTSGRCh37
Build 362234,333,902 - 234,334,512RGDNCBI36
Celera2228,389,796 - 228,390,406RGD
Cytogenetic Map2q37UniSTS
HuRef2226,469,012 - 226,469,622UniSTS
ECD11579  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,638,745 - 234,639,312UniSTSGRCh37
Build 362234,303,484 - 234,304,051RGDNCBI36
Celera2228,359,364 - 228,359,931RGD
Cytogenetic Map2q37UniSTS
HuRef2226,438,588 - 226,439,155UniSTS
ECD11689  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,639,362 - 234,639,926UniSTSGRCh37
Build 362234,304,101 - 234,304,665RGDNCBI36
Celera2228,359,981 - 228,360,545RGD
Cytogenetic Map2q37UniSTS
HuRef2226,439,205 - 226,439,769UniSTS
ECD12899  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,660,587 - 234,661,118UniSTSGRCh37
Build 362234,325,326 - 234,325,857RGDNCBI36
Celera2228,381,206 - 228,381,737RGD
Cytogenetic Map2q37UniSTS
HuRef2226,460,430 - 226,460,961UniSTS
ECD13271  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,661,998 - 234,662,519UniSTSGRCh37
Build 362234,326,737 - 234,327,258RGDNCBI36
Celera2228,382,617 - 228,383,138RGD
Cytogenetic Map2q37UniSTS
HuRef2226,461,841 - 226,462,362UniSTS
ECD13431  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,680,826 - 234,681,343UniSTSGRCh37
Build 362234,345,565 - 234,346,082RGDNCBI36
Celera2228,401,458 - 228,401,975RGD
Cytogenetic Map2q37UniSTS
HuRef2226,480,660 - 226,481,177UniSTS
ECD14111  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,661,449 - 234,661,949UniSTSGRCh37
Build 362234,326,188 - 234,326,688RGDNCBI36
Celera2228,382,068 - 228,382,568RGD
Cytogenetic Map2q37UniSTS
HuRef2226,461,292 - 226,461,792UniSTS
ECD14611  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,681,398 - 234,681,887UniSTSGRCh37
Build 362234,346,137 - 234,346,626RGDNCBI36
Celera2228,402,030 - 228,402,519RGD
Cytogenetic Map2q37UniSTS
HuRef2226,481,232 - 226,481,721UniSTS
ECD15365  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,650,252 - 234,650,723UniSTSGRCh37
Build 362234,314,991 - 234,315,462RGDNCBI36
Celera2228,370,871 - 228,371,342RGD
Cytogenetic Map2q37UniSTS
HuRef2226,450,095 - 226,450,566UniSTS
ECD15753  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,649,782 - 234,650,244UniSTSGRCh37
Build 362234,314,521 - 234,314,983RGDNCBI36
Celera2228,370,401 - 228,370,863RGD
Cytogenetic Map2q37UniSTS
HuRef2226,449,625 - 226,450,087UniSTS
ECD18210  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,679,986 - 234,680,354UniSTSGRCh37
Build 362234,344,725 - 234,345,093RGDNCBI36
Celera2228,400,618 - 228,400,986RGD
Cytogenetic Map2q37UniSTS
HuRef2226,479,820 - 226,480,188UniSTS
ECD18237  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,678,540 - 234,678,907UniSTSGRCh37
Build 362234,343,279 - 234,343,646RGDNCBI36
Celera2228,399,172 - 228,399,539RGD
Cytogenetic Map2q37UniSTS
HuRef2226,478,374 - 226,478,741UniSTS
ECD18333  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,677,666 - 234,678,029UniSTSGRCh37
Build 362234,342,405 - 234,342,768RGDNCBI36
Celera2228,398,298 - 228,398,661RGD
Cytogenetic Map2q37UniSTS
HuRef2226,477,500 - 226,477,863UniSTS
ECD18525  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,666,271 - 234,666,627UniSTSGRCh37
Build 362234,331,010 - 234,331,366RGDNCBI36
Celera2228,386,904 - 228,387,260RGD
Cytogenetic Map2q37UniSTS
HuRef2226,466,120 - 226,466,476UniSTS
ECD19171  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,670,933 - 234,671,264UniSTSGRCh37
Build 362234,335,672 - 234,336,003RGDNCBI36
Celera2228,391,566 - 228,391,897RGD
Cytogenetic Map2q37UniSTS
HuRef2226,470,782 - 226,471,113UniSTS
ECD23043  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,678,146 - 234,678,345UniSTSGRCh37
Build 362234,342,885 - 234,343,084RGDNCBI36
Celera2228,398,778 - 228,398,977RGD
Cytogenetic Map2q37UniSTS
HuRef2226,477,980 - 226,478,179UniSTS
ECD23517  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,668,160 - 234,668,346UniSTSGRCh37
Build 362234,332,899 - 234,333,085RGDNCBI36
Celera2228,388,793 - 228,388,979RGD
Cytogenetic Map2q37UniSTS
HuRef2226,468,009 - 226,468,195UniSTS
WI-12095  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,681,767 - 234,681,914UniSTSGRCh37
Build 362234,346,506 - 234,346,653RGDNCBI36
Celera2228,402,399 - 228,402,546RGD
Cytogenetic Map2q37UniSTS
HuRef2226,481,601 - 226,481,748UniSTS
GeneMap99-GB4 RH Map2729.25UniSTS
Whitehead-RH Map21067.3UniSTS
REN45958  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,682,113 - 234,682,362UniSTSGRCh37
Build 362234,346,852 - 234,347,101RGDNCBI36
Celera2228,402,745 - 228,402,994RGD
Cytogenetic Map2q37UniSTS
HuRef2226,481,947 - 226,482,196UniSTS
REN45959  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,681,869 - 234,682,134UniSTSGRCh37
Build 362234,346,608 - 234,346,873RGDNCBI36
Celera2228,402,501 - 228,402,766RGD
Cytogenetic Map2q37UniSTS
HuRef2226,481,703 - 226,481,968UniSTS
REN45960  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,681,667 - 234,681,893UniSTSGRCh37
Build 362234,346,406 - 234,346,632RGDNCBI36
Celera2228,402,299 - 228,402,525RGD
Cytogenetic Map2q37UniSTS
HuRef2226,481,501 - 226,481,727UniSTS
REN45961  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,681,447 - 234,681,683UniSTSGRCh37
Build 362234,346,186 - 234,346,422RGDNCBI36
Celera2228,402,079 - 228,402,315RGD
Cytogenetic Map2q37UniSTS
HuRef2226,481,281 - 226,481,517UniSTS
REN45962  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,681,203 - 234,681,440UniSTSGRCh37
Build 362234,345,942 - 234,346,179RGDNCBI36
Celera2228,401,835 - 228,402,072RGD
Cytogenetic Map2q37UniSTS
HuRef2226,481,037 - 226,481,274UniSTS
REN45963  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,680,989 - 234,681,227UniSTSGRCh37
Build 362234,345,728 - 234,345,966RGDNCBI36
Celera2228,401,621 - 228,401,859RGD
Cytogenetic Map2q37UniSTS
HuRef2226,480,823 - 226,481,061UniSTS
REN45964  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,680,783 - 234,681,011UniSTSGRCh37
Build 362234,345,522 - 234,345,750RGDNCBI36
Celera2228,401,415 - 228,401,643RGD
Cytogenetic Map2q37UniSTS
HuRef2226,480,617 - 226,480,845UniSTS
REN45965  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,680,568 - 234,680,803UniSTSGRCh37
Build 362234,345,307 - 234,345,542RGDNCBI36
Celera2228,401,200 - 228,401,435RGD
Cytogenetic Map2q37UniSTS
HuRef2226,480,402 - 226,480,637UniSTS
REN45966  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,680,096 - 234,680,354UniSTSGRCh37
Build 362234,344,835 - 234,345,093RGDNCBI36
Celera2228,400,728 - 228,400,986RGD
Cytogenetic Map2q37UniSTS
HuRef2226,479,930 - 226,480,188UniSTS
REN45967  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,679,867 - 234,680,116UniSTSGRCh37
Build 362234,344,606 - 234,344,855RGDNCBI36
Celera2228,400,499 - 228,400,748RGD
Cytogenetic Map2q37UniSTS
HuRef2226,479,701 - 226,479,950UniSTS
REN45968  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,679,651 - 234,679,881UniSTSGRCh37
Build 362234,344,390 - 234,344,620RGDNCBI36
Celera2228,400,283 - 228,400,513RGD
Cytogenetic Map2q37UniSTS
HuRef2226,479,485 - 226,479,715UniSTS
REN45969  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,679,333 - 234,679,582UniSTSGRCh37
Build 362234,344,072 - 234,344,321RGDNCBI36
Celera2228,399,965 - 228,400,214RGD
Cytogenetic Map2q37UniSTS
HuRef2226,479,167 - 226,479,416UniSTS
REN45970  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,679,088 - 234,679,349UniSTSGRCh37
Build 362234,343,827 - 234,344,088RGDNCBI36
Celera2228,399,720 - 228,399,981RGD
Cytogenetic Map2q37UniSTS
HuRef2226,478,922 - 226,479,183UniSTS
REN45971  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,678,657 - 234,678,910UniSTSGRCh37
Build 362234,343,396 - 234,343,649RGDNCBI36
Celera2228,399,289 - 228,399,542RGD
Cytogenetic Map2q37UniSTS
HuRef2226,478,491 - 226,478,744UniSTS
REN45972  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,678,425 - 234,678,667UniSTSGRCh37
Build 362234,343,164 - 234,343,406RGDNCBI36
Celera2228,399,057 - 228,399,299RGD
Cytogenetic Map2q37UniSTS
HuRef2226,478,259 - 226,478,501UniSTS
REN45973  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,678,221 - 234,678,448UniSTSGRCh37
Build 362234,342,960 - 234,343,187RGDNCBI36
Celera2228,398,853 - 228,399,080RGD
Cytogenetic Map2q37UniSTS
HuRef2226,478,055 - 226,478,282UniSTS
REN45974  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,678,019 - 234,678,243UniSTSGRCh37
Build 362234,342,758 - 234,342,982RGDNCBI36
Celera2228,398,651 - 228,398,875RGD
Cytogenetic Map2q37UniSTS
HuRef2226,477,853 - 226,478,077UniSTS
REN45975  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,677,788 - 234,678,029UniSTSGRCh37
Build 362234,342,527 - 234,342,768RGDNCBI36
Celera2228,398,420 - 228,398,661RGD
Cytogenetic Map2q37UniSTS
HuRef2226,477,622 - 226,477,863UniSTS
REN45976  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,677,515 - 234,677,780UniSTSGRCh37
Build 362234,342,254 - 234,342,519RGDNCBI36
Celera2228,398,147 - 228,398,412RGD
Cytogenetic Map2q37UniSTS
HuRef2226,477,349 - 226,477,614UniSTS
REN45977  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,676,960 - 234,677,185UniSTSGRCh37
Build 362234,341,699 - 234,341,924RGDNCBI36
Celera2228,397,593 - 228,397,818RGD
Cytogenetic Map2q37UniSTS
HuRef2226,476,795 - 226,477,020UniSTS
REN45978  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,676,757 - 234,676,982UniSTSGRCh37
Build 362234,341,496 - 234,341,721RGDNCBI36
Celera2228,397,390 - 228,397,615RGD
Cytogenetic Map2q37UniSTS
HuRef2226,476,592 - 226,476,817UniSTS
REN45979  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,676,529 - 234,676,753UniSTSGRCh37
Build 362234,341,268 - 234,341,492RGDNCBI36
Celera2228,397,162 - 228,397,386RGD
Cytogenetic Map2q37UniSTS
HuRef2226,476,364 - 226,476,588UniSTS
REN45980  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,676,288 - 234,676,514UniSTSGRCh37
Build 362234,341,027 - 234,341,253RGDNCBI36
Celera2228,396,921 - 228,397,147RGD
Cytogenetic Map2q37UniSTS
HuRef2226,476,123 - 226,476,349UniSTS
REN45981  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,676,017 - 234,676,241UniSTSGRCh37
Build 362234,340,756 - 234,340,980RGDNCBI36
Celera2228,396,650 - 228,396,874RGD
Cytogenetic Map2q37UniSTS
HuRef2226,475,852 - 226,476,076UniSTS
REN45982  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,675,795 - 234,676,034UniSTSGRCh37
Build 362234,340,534 - 234,340,773RGDNCBI36
Celera2228,396,428 - 228,396,667RGD
Cytogenetic Map2q37UniSTS
HuRef2226,475,630 - 226,475,869UniSTS
REN45983  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,675,559 - 234,675,784UniSTSGRCh37
Build 362234,340,298 - 234,340,523RGDNCBI36
Celera2228,396,192 - 228,396,417RGD
Cytogenetic Map2q37UniSTS
HuRef2226,475,394 - 226,475,619UniSTS
REN45984  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,675,344 - 234,675,578UniSTSGRCh37
Build 362234,340,083 - 234,340,317RGDNCBI36
Celera2228,395,977 - 228,396,211RGD
Cytogenetic Map2q37UniSTS
HuRef2226,475,179 - 226,475,413UniSTS
REN45985  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,675,144 - 234,675,368UniSTSGRCh37
Build 362234,339,883 - 234,340,107RGDNCBI36
Celera2228,395,777 - 228,396,001RGD
Cytogenetic Map2q37UniSTS
HuRef2226,474,979 - 226,475,203UniSTS
REN45987  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,674,648 - 234,674,884UniSTSGRCh37
Build 362234,339,387 - 234,339,623RGDNCBI36
Celera2228,395,281 - 228,395,517RGD
Cytogenetic Map2q37UniSTS
HuRef2226,474,497 - 226,474,733UniSTS
REN45988  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,674,388 - 234,674,626UniSTSGRCh37
Build 362234,339,127 - 234,339,365RGDNCBI36
Celera2228,395,021 - 228,395,259RGD
Cytogenetic Map2q37UniSTS
HuRef2226,474,237 - 226,474,475UniSTS
REN45989  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,674,186 - 234,674,410UniSTSGRCh37
Build 362234,338,925 - 234,339,149RGDNCBI36
Celera2228,394,819 - 228,395,043RGD
Cytogenetic Map2q37UniSTS
HuRef2226,474,035 - 226,474,259UniSTS
REN45990  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,673,634 - 234,673,877UniSTSGRCh37
Build 362234,338,373 - 234,338,616RGDNCBI36
Celera2228,394,267 - 228,394,510RGD
Cytogenetic Map2q37UniSTS
HuRef2226,473,483 - 226,473,726UniSTS
REN45991  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,673,371 - 234,673,627UniSTSGRCh37
Build 362234,338,110 - 234,338,366RGDNCBI36
Celera2228,394,004 - 228,394,260RGD
Cytogenetic Map2q37UniSTS
HuRef2226,473,220 - 226,473,476UniSTS
REN45992  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,673,140 - 234,673,382UniSTSGRCh37
Build 362234,337,879 - 234,338,121RGDNCBI36
Celera2228,393,773 - 228,394,015RGD
Cytogenetic Map2q37UniSTS
HuRef2226,472,989 - 226,473,231UniSTS
REN45993  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,672,938 - 234,673,162UniSTSGRCh37
Build 362234,337,677 - 234,337,901RGDNCBI36
Celera2228,393,571 - 228,393,795RGD
Cytogenetic Map2q37UniSTS
HuRef2226,472,787 - 226,473,011UniSTS
REN45994  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,672,708 - 234,672,959UniSTSGRCh37
Build 362234,337,447 - 234,337,698RGDNCBI36
Celera2228,393,341 - 228,393,592RGD
Cytogenetic Map2q37UniSTS
HuRef2226,472,557 - 226,472,808UniSTS
REN45995  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,672,479 - 234,672,725UniSTSGRCh37
Build 362234,337,218 - 234,337,464RGDNCBI36
Celera2228,393,112 - 228,393,358RGD
Cytogenetic Map2q37UniSTS
HuRef2226,472,328 - 226,472,574UniSTS
REN45996  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,672,257 - 234,672,502UniSTSGRCh37
Build 362234,336,996 - 234,337,241RGDNCBI36
Celera2228,392,890 - 228,393,135RGD
Cytogenetic Map2q37UniSTS
HuRef2226,472,106 - 226,472,351UniSTS
REN45997  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,672,004 - 234,672,271UniSTSGRCh37
Build 362234,336,743 - 234,337,010RGDNCBI36
Celera2228,392,637 - 228,392,904RGD
Cytogenetic Map2q37UniSTS
HuRef2226,471,853 - 226,472,120UniSTS
REN45998  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,671,790 - 234,672,028UniSTSGRCh37
Build 362234,336,529 - 234,336,767RGDNCBI36
Celera2228,392,423 - 228,392,661RGD
Cytogenetic Map2q37UniSTS
HuRef2226,471,639 - 226,471,877UniSTS
REN45999  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,671,587 - 234,671,812UniSTSGRCh37
Build 362234,336,326 - 234,336,551RGDNCBI36
Celera2228,392,220 - 228,392,445RGD
Cytogenetic Map2q37UniSTS
HuRef2226,471,436 - 226,471,661UniSTS
REN46000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,671,333 - 234,671,567UniSTSGRCh37
Build 362234,336,072 - 234,336,306RGDNCBI36
Celera2228,391,966 - 228,392,200RGD
Cytogenetic Map2q37UniSTS
HuRef2226,471,182 - 226,471,416UniSTS
REN46001  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,671,077 - 234,671,346UniSTSGRCh37
Build 362234,335,816 - 234,336,085RGDNCBI36
Celera2228,391,710 - 228,391,979RGD
Cytogenetic Map2q37UniSTS
HuRef2226,470,926 - 226,471,195UniSTS
REN46002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,670,784 - 234,671,016UniSTSGRCh37
Build 362234,335,523 - 234,335,755RGDNCBI36
Celera2228,391,417 - 228,391,649RGD
Cytogenetic Map2q37UniSTS
HuRef2226,470,633 - 226,470,865UniSTS
REN46003  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,670,539 - 234,670,801UniSTSGRCh37
Build 362234,335,278 - 234,335,540RGDNCBI36
Celera2228,391,172 - 228,391,434RGD
Cytogenetic Map2q37UniSTS
HuRef2226,470,388 - 226,470,650UniSTS
REN46004  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,670,317 - 234,670,561UniSTSGRCh37
Build 362234,335,056 - 234,335,300RGDNCBI36
Celera2228,390,950 - 228,391,194RGD
Cytogenetic Map2q37UniSTS
HuRef2226,470,166 - 226,470,410UniSTS
REN46005  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,670,103 - 234,670,341UniSTSGRCh37
Build 362234,334,842 - 234,335,080RGDNCBI36
Celera2228,390,736 - 228,390,974RGD
Cytogenetic Map2q37UniSTS
HuRef2226,469,952 - 226,470,190UniSTS
REN46006  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,669,871 - 234,670,095UniSTSGRCh37
Build 362234,334,610 - 234,334,834RGDNCBI36
Celera2228,390,504 - 228,390,728RGD
Cytogenetic Map2q37UniSTS
HuRef2226,469,720 - 226,469,944UniSTS
REN46007  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,669,634 - 234,669,871UniSTSGRCh37
Build 362234,334,373 - 234,334,610RGDNCBI36
Celera2228,390,267 - 228,390,504RGD
Cytogenetic Map2q37UniSTS
HuRef2226,469,483 - 226,469,720UniSTS
REN46008  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,669,381 - 234,669,628UniSTSGRCh37
Build 362234,334,120 - 234,334,367RGDNCBI36
Celera2228,390,014 - 228,390,261RGD
Cytogenetic Map2q37UniSTS
HuRef2226,469,230 - 226,469,477UniSTS
REN46009  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,669,134 - 234,669,386UniSTSGRCh37
Build 362234,333,873 - 234,334,125RGDNCBI36
Celera2228,389,767 - 228,390,019RGD
Cytogenetic Map2q37UniSTS
HuRef2226,468,983 - 226,469,235UniSTS
REN46010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,668,909 - 234,669,157UniSTSGRCh37
Build 362234,333,648 - 234,333,896RGDNCBI36
Celera2228,389,542 - 228,389,790RGD
Cytogenetic Map2q37UniSTS
HuRef2226,468,758 - 226,469,006UniSTS
REN46011  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,668,666 - 234,668,916UniSTSGRCh37
Build 362234,333,405 - 234,333,655RGDNCBI36
Celera2228,389,299 - 228,389,549RGD
Cytogenetic Map2q37UniSTS
HuRef2226,468,515 - 226,468,765UniSTS
REN46012  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,668,438 - 234,668,690UniSTSGRCh37
Build 362234,333,177 - 234,333,429RGDNCBI36
Celera2228,389,071 - 228,389,323RGD
Cytogenetic Map2q37UniSTS
HuRef2226,468,287 - 226,468,539UniSTS
REN46013  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,668,209 - 234,668,454UniSTSGRCh37
Build 362234,332,948 - 234,333,193RGDNCBI36
Celera2228,388,842 - 228,389,087RGD
Cytogenetic Map2q37UniSTS
HuRef2226,468,058 - 226,468,303UniSTS
REN46014  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,667,959 - 234,668,227UniSTSGRCh37
Build 362234,332,698 - 234,332,966RGDNCBI36
Celera2228,388,592 - 228,388,860RGD
Cytogenetic Map2q37UniSTS
HuRef2226,467,808 - 226,468,076UniSTS
REN46015  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,667,751 - 234,667,982UniSTSGRCh37
Build 362234,332,490 - 234,332,721RGDNCBI36
Celera2228,388,384 - 228,388,615RGD
Cytogenetic Map2q37UniSTS
HuRef2226,467,600 - 226,467,831UniSTS
REN46016  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,667,482 - 234,667,733UniSTSGRCh37
Build 362234,332,221 - 234,332,472RGDNCBI36
Celera2228,388,115 - 228,388,366RGD
Cytogenetic Map2q37UniSTS
HuRef2226,467,331 - 226,467,582UniSTS
REN46017  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,667,259 - 234,667,503UniSTSGRCh37
Build 362234,331,998 - 234,332,242RGDNCBI36
Celera2228,387,892 - 228,388,136RGD
Cytogenetic Map2q37UniSTS
HuRef2226,467,108 - 226,467,352UniSTS
REN46018  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,667,017 - 234,667,260UniSTSGRCh37
Build 362234,331,756 - 234,331,999RGDNCBI36
Celera2228,387,650 - 228,387,893RGD
Cytogenetic Map2q37UniSTS
HuRef2226,466,866 - 226,467,109UniSTS
REN46019  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,666,771 - 234,667,023UniSTSGRCh37
Build 362234,331,510 - 234,331,762RGDNCBI36
Celera2228,387,404 - 228,387,656RGD
Cytogenetic Map2q37UniSTS
HuRef2226,466,620 - 226,466,872UniSTS
REN46020  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,666,540 - 234,666,781UniSTSGRCh37
Build 362234,331,279 - 234,331,520RGDNCBI36
Celera2228,387,173 - 228,387,414RGD
Cytogenetic Map2q37UniSTS
HuRef2226,466,389 - 226,466,630UniSTS
REN46021  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,666,313 - 234,666,551UniSTSGRCh37
Build 362234,331,052 - 234,331,290RGDNCBI36
Celera2228,386,946 - 228,387,184RGD
Cytogenetic Map2q37UniSTS
HuRef2226,466,162 - 226,466,400UniSTS
REN46022  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,666,089 - 234,666,331UniSTSGRCh37
Build 362234,330,828 - 234,331,070RGDNCBI36
Celera2228,386,706 - 228,386,964RGD
Cytogenetic Map2q37UniSTS
HuRef2226,465,932 - 226,466,180UniSTS
REN46023  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,665,825 - 234,666,083UniSTSGRCh37
Build 362234,330,564 - 234,330,822RGDNCBI36
Celera2228,386,442 - 228,386,700RGD
Cytogenetic Map2q37UniSTS
HuRef2226,465,668 - 226,465,926UniSTS
REN46024  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,665,527 - 234,665,778UniSTSGRCh37
Build 362234,330,266 - 234,330,517RGDNCBI36
Celera2228,386,144 - 228,386,395RGD
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2q37UniSTS
HuRef2226,465,370 - 226,465,621UniSTS
REN46025  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,665,302 - 234,665,549UniSTSGRCh37
Build 362234,330,041 - 234,330,288RGDNCBI36
Celera2228,385,919 - 228,386,166RGD
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2q37UniSTS
HuRef2226,465,145 - 226,465,392UniSTS
REN46026  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,665,101 - 234,665,325UniSTSGRCh37
GRCh372234,653,747 - 234,653,971UniSTSGRCh37
Build 362234,318,486 - 234,318,710RGDNCBI36
Celera2228,374,366 - 228,374,590RGD
Celera2228,385,718 - 228,385,942UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map2q37.1UniSTS
HuRef2226,464,944 - 226,465,168UniSTS
HuRef2226,453,590 - 226,453,814UniSTS
REN46027  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,664,623 - 234,664,859UniSTSGRCh37
GRCh372234,653,273 - 234,653,509UniSTSGRCh37
Build 362234,318,012 - 234,318,248RGDNCBI36
Celera2228,373,892 - 228,374,128RGD
Celera2228,385,240 - 228,385,476UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map2q37.1UniSTS
HuRef2226,464,466 - 226,464,702UniSTS
HuRef2226,453,116 - 226,453,352UniSTS
REN46028  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,664,354 - 234,664,609UniSTSGRCh37
Build 362234,329,093 - 234,329,348RGDNCBI36
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2q37UniSTS
HuRef2226,464,197 - 226,464,452UniSTS
REN46029  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,663,766 - 234,663,998UniSTSGRCh37
Build 362234,328,505 - 234,328,737RGDNCBI36
Celera2228,384,385 - 228,384,617RGD
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2q37UniSTS
HuRef2226,463,609 - 226,463,841UniSTS
REN46030  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,663,515 - 234,663,740UniSTSGRCh37
Build 362234,328,254 - 234,328,479RGDNCBI36
Celera2228,384,134 - 228,384,359RGD
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2q37UniSTS
HuRef2226,463,358 - 226,463,583UniSTS
REN46031  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,663,212 - 234,663,486UniSTSGRCh37
Build 362234,327,951 - 234,328,225RGDNCBI36
Celera2228,383,831 - 228,384,105RGD
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2q37UniSTS
HuRef2226,463,055 - 226,463,329UniSTS
REN46032  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,662,914 - 234,663,176UniSTSGRCh37
Build 362234,327,653 - 234,327,915RGDNCBI36
Celera2228,383,533 - 228,383,795RGD
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2q37UniSTS
HuRef2226,462,757 - 226,463,019UniSTS
REN46033  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,662,659 - 234,662,926UniSTSGRCh37
Build 362234,327,398 - 234,327,665RGDNCBI36
Celera2228,383,278 - 228,383,545RGD
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2q37UniSTS
HuRef2226,462,502 - 226,462,769UniSTS
REN46034  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,662,377 - 234,662,632UniSTSGRCh37
Build 362234,327,116 - 234,327,371RGDNCBI36
Celera2228,382,996 - 228,383,251RGD
Cytogenetic Map2q37UniSTS
HuRef2226,462,220 - 226,462,475UniSTS
REN46035  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,662,151 - 234,662,399UniSTSGRCh37
Build 362234,326,890 - 234,327,138RGDNCBI36
Celera2228,382,770 - 228,383,018RGD
Cytogenetic Map2q37UniSTS
HuRef2226,461,994 - 226,462,242UniSTS
REN46036  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,661,911 - 234,662,169UniSTSGRCh37
Build 362234,326,650 - 234,326,908RGDNCBI36
Celera2228,382,530 - 228,382,788RGD
Cytogenetic Map2q37UniSTS
HuRef2226,461,754 - 226,462,012UniSTS
REN46037  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,661,683 - 234,661,910UniSTSGRCh37
Build 362234,326,422 - 234,326,649RGDNCBI36
Celera2228,382,302 - 228,382,529RGD
Cytogenetic Map2q37UniSTS
HuRef2226,461,526 - 226,461,753UniSTS
REN46038  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,661,449 - 234,661,673UniSTSGRCh37
Build 362234,326,188 - 234,326,412RGDNCBI36
Celera2228,382,068 - 228,382,292RGD
Cytogenetic Map2q37UniSTS
HuRef2226,461,292 - 226,461,516UniSTS
REN46039  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,661,202 - 234,661,433UniSTSGRCh37
Build 362234,325,941 - 234,326,172RGDNCBI36
Celera2228,381,821 - 228,382,052RGD
Cytogenetic Map2q37UniSTS
HuRef2226,461,045 - 226,461,276UniSTS
REN46040  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,660,982 - 234,661,211UniSTSGRCh37
Build 362234,325,721 - 234,325,950RGDNCBI36
Celera2228,381,601 - 228,381,830RGD
Cytogenetic Map2q37UniSTS
HuRef2226,460,825 - 226,461,054UniSTS
REN46041  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,660,681 - 234,660,922UniSTSGRCh37
Build 362234,325,420 - 234,325,661RGDNCBI36
Celera2228,381,300 - 228,381,541RGD
Cytogenetic Map2q37UniSTS
HuRef2226,460,524 - 226,460,765UniSTS
REN46042  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,660,475 - 234,660,699UniSTSGRCh37
Build 362234,325,214 - 234,325,438RGDNCBI36
Celera2228,381,094 - 228,381,318RGD
Cytogenetic Map2q37UniSTS
HuRef2226,460,318 - 226,460,542UniSTS
REN46043  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,660,164 - 234,660,412UniSTSGRCh37
Build 362234,324,903 - 234,325,151RGDNCBI36
Celera2228,380,783 - 228,381,031RGD
Cytogenetic Map2q37UniSTS
HuRef2226,460,007 - 226,460,255UniSTS
REN46044  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,659,937 - 234,660,173UniSTSGRCh37
GRCh372234,648,272 - 234,648,516UniSTSGRCh37
Build 362234,313,011 - 234,313,255RGDNCBI36
Celera2228,380,556 - 228,380,792UniSTS
Celera2228,368,891 - 228,369,135RGD
Cytogenetic Map2q37UniSTS
HuRef2226,448,115 - 226,448,359UniSTS
HuRef2226,459,780 - 226,460,016UniSTS
REN46045  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,659,638 - 234,659,864UniSTSGRCh37
Build 362234,324,377 - 234,324,603RGDNCBI36
Celera2228,380,257 - 228,380,483RGD
Cytogenetic Map2q37UniSTS
HuRef2226,459,481 - 226,459,707UniSTS
REN46046  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,659,421 - 234,659,655UniSTSGRCh37
Build 362234,324,160 - 234,324,394RGDNCBI36
Celera2228,380,040 - 228,380,274RGD
Cytogenetic Map2q37UniSTS
HuRef2226,459,264 - 226,459,498UniSTS
REN46047  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,658,216 - 234,658,460UniSTSGRCh37
Build 362234,322,955 - 234,323,199RGDNCBI36
Celera2228,378,835 - 228,379,079RGD
Cytogenetic Map2q37UniSTS
HuRef2226,458,059 - 226,458,303UniSTS
REN46048  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,657,999 - 234,658,239UniSTSGRCh37
Build 362234,322,738 - 234,322,978RGDNCBI36
Celera2228,378,618 - 228,378,858RGD
Cytogenetic Map2q37UniSTS
HuRef2226,457,842 - 226,458,082UniSTS
REN46049  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,657,728 - 234,657,990UniSTSGRCh37
Build 362234,322,467 - 234,322,729RGDNCBI36
Celera2228,378,347 - 228,378,609RGD
Cytogenetic Map2q37UniSTS
HuRef2226,457,571 - 226,457,833UniSTS
REN46050  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,657,485 - 234,657,731UniSTSGRCh37
Build 362234,322,224 - 234,322,470RGDNCBI36
Celera2228,378,104 - 228,378,350RGD
Cytogenetic Map2q37UniSTS
HuRef2226,457,328 - 226,457,574UniSTS
REN46051  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,657,253 - 234,657,482UniSTSGRCh37
Build 362234,321,992 - 234,322,221RGDNCBI36
Celera2228,377,872 - 228,378,101RGD
Cytogenetic Map2q37UniSTS
HuRef2226,457,096 - 226,457,325UniSTS
REN46052  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,657,043 - 234,657,268UniSTSGRCh37
Build 362234,321,782 - 234,322,007RGDNCBI36
Celera2228,377,662 - 228,377,887RGD
Cytogenetic Map2q37UniSTS
HuRef2226,456,886 - 226,457,111UniSTS
REN46053  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,656,821 - 234,657,067UniSTSGRCh37
Build 362234,321,560 - 234,321,806RGDNCBI36
Celera2228,377,440 - 228,377,686RGD
Cytogenetic Map2q37UniSTS
HuRef2226,456,664 - 226,456,910UniSTS
REN46054  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,656,583 - 234,656,844UniSTSGRCh37
Build 362234,321,322 - 234,321,583RGDNCBI36
Celera2228,377,202 - 228,377,463RGD
Cytogenetic Map2q37UniSTS
HuRef2226,456,426 - 226,456,687UniSTS
REN46055  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,656,337 - 234,656,604UniSTSGRCh37
Build 362234,321,076 - 234,321,343RGDNCBI36
Celera2228,376,956 - 228,377,223RGD
Cytogenetic Map2q37UniSTS
HuRef2226,456,180 - 226,456,447UniSTS
REN46056  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,656,116 - 234,656,361UniSTSGRCh37
Build 362234,320,855 - 234,321,100RGDNCBI36
Celera2228,376,735 - 228,376,980RGD
Cytogenetic Map2q37UniSTS
HuRef2226,455,959 - 226,456,204UniSTS
REN46057  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,655,902 - 234,656,140UniSTSGRCh37
Build 362234,320,641 - 234,320,879RGDNCBI36
Celera2228,376,521 - 228,376,759RGD
Cytogenetic Map2q37UniSTS
HuRef2226,455,745 - 226,455,983UniSTS
REN46058  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,655,671 - 234,655,926UniSTSGRCh37
Build 362234,320,410 - 234,320,665RGDNCBI36
Celera2228,376,290 - 228,376,545RGD
Cytogenetic Map2q37UniSTS
HuRef2226,455,514 - 226,455,769UniSTS
REN46059  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,655,457 - 234,655,694UniSTSGRCh37
Build 362234,320,196 - 234,320,433RGDNCBI36
Celera2228,376,076 - 228,376,313RGD
Cytogenetic Map2q37UniSTS
HuRef2226,455,300 - 226,455,537UniSTS
REN46060  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,655,234 - 234,655,480UniSTSGRCh37
Build 362234,319,973 - 234,320,219RGDNCBI36
Celera2228,375,853 - 228,376,099RGD
Cytogenetic Map2q37UniSTS
HuRef2226,455,077 - 226,455,323UniSTS
REN46061  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,655,009 - 234,655,258UniSTSGRCh37
Build 362234,319,748 - 234,319,997RGDNCBI36
Celera2228,375,628 - 228,375,877RGD
Cytogenetic Map2q37UniSTS
HuRef2226,454,852 - 226,455,101UniSTS
REN46062  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,654,770 - 234,655,031UniSTSGRCh37
Build 362234,319,509 - 234,319,770RGDNCBI36
Celera2228,375,389 - 228,375,650RGD
Cytogenetic Map2q37UniSTS
HuRef2226,454,613 - 226,454,874UniSTS
REN46063  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,654,559 - 234,654,792UniSTSGRCh37
Build 362234,319,298 - 234,319,531RGDNCBI36
Celera2228,375,178 - 228,375,411RGD
Cytogenetic Map2q37UniSTS
HuRef2226,454,402 - 226,454,635UniSTS
REN46064  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,665,713 - 234,665,938UniSTSGRCh37
GRCh372234,654,355 - 234,654,583UniSTSGRCh37
Build 362234,319,094 - 234,319,322RGDNCBI36
Celera2228,386,330 - 228,386,555UniSTS
Celera2228,374,974 - 228,375,202RGD
Cytogenetic Map2q37UniSTS
HuRef2226,454,198 - 226,454,426UniSTS
HuRef2226,465,556 - 226,465,781UniSTS
REN46065  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,654,150 - 234,654,376UniSTSGRCh37
Build 362234,318,889 - 234,319,115RGDNCBI36
Celera2228,374,769 - 228,374,995RGD
Cytogenetic Map2q37UniSTS
HuRef2226,453,993 - 226,454,219UniSTS
REN46066  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,665,270 - 234,665,499UniSTSGRCh37
GRCh372234,653,916 - 234,654,141UniSTSGRCh37
Build 362234,318,655 - 234,318,880RGDNCBI36
Celera2228,374,535 - 228,374,760RGD
Celera2228,385,887 - 228,386,116UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map2q37.1UniSTS
HuRef2226,465,113 - 226,465,342UniSTS
HuRef2226,453,759 - 226,453,984UniSTS
REN46067  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,664,621 - 234,664,860UniSTSGRCh37
GRCh372234,653,271 - 234,653,510UniSTSGRCh37
Build 362234,318,010 - 234,318,249RGDNCBI36
Celera2228,373,890 - 228,374,129RGD
Celera2228,385,238 - 228,385,477UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map2q37.1UniSTS
HuRef2226,464,464 - 226,464,703UniSTS
HuRef2226,453,114 - 226,453,353UniSTS
REN46068  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,664,364 - 234,664,616UniSTSGRCh37
GRCh372234,653,013 - 234,653,265UniSTSGRCh37
Build 362234,317,752 - 234,318,004RGDNCBI36
Celera2228,373,632 - 228,373,884RGD
Celera2228,384,983 - 228,385,232UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map2q37.1UniSTS
HuRef2226,464,207 - 226,464,459UniSTS
HuRef2226,452,856 - 226,453,108UniSTS
REN46069  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,664,083 - 234,664,340UniSTSGRCh37
GRCh372234,652,732 - 234,652,989UniSTSGRCh37
Build 362234,317,471 - 234,317,728RGDNCBI36
Celera2228,373,351 - 228,373,608RGD
Celera2228,384,702 - 228,384,959UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map2q37.1UniSTS
HuRef2226,463,926 - 226,464,183UniSTS
HuRef2226,452,575 - 226,452,832UniSTS
REN46070  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,652,416 - 234,652,679UniSTSGRCh37
Build 362234,317,155 - 234,317,418RGDNCBI36
Celera2228,373,035 - 228,373,298RGD
Cytogenetic Map2q37UniSTS
HuRef2226,452,259 - 226,452,522UniSTS
REN46071  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,652,136 - 234,652,387UniSTSGRCh37
Build 362234,316,875 - 234,317,126RGDNCBI36
Celera2228,372,755 - 228,373,006RGD
Cytogenetic Map2q37UniSTS
HuRef2226,451,979 - 226,452,230UniSTS
REN46072  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,651,633 - 234,651,858UniSTSGRCh37
Build 362234,316,372 - 234,316,597RGDNCBI36
Celera2228,372,252 - 228,372,477RGD
Cytogenetic Map2q37UniSTS
HuRef2226,451,476 - 226,451,701UniSTS
REN46073  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,651,367 - 234,651,608UniSTSGRCh37
Build 362234,316,106 - 234,316,347RGDNCBI36
Celera2228,371,986 - 228,372,227RGD
Cytogenetic Map2q37UniSTS
HuRef2226,451,210 - 226,451,451UniSTS
REN46074  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,651,141 - 234,651,386UniSTSGRCh37
Build 362234,315,880 - 234,316,125RGDNCBI36
Celera2228,371,760 - 228,372,005RGD
Cytogenetic Map2q37UniSTS
HuRef2226,450,984 - 226,451,229UniSTS
REN46075  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,650,907 - 234,651,140UniSTSGRCh37
Build 362234,315,646 - 234,315,879RGDNCBI36
Celera2228,371,526 - 228,371,759RGD
Cytogenetic Map2q37UniSTS
HuRef2226,450,750 - 226,450,983UniSTS
REN46076  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,650,692 - 234,650,929UniSTSGRCh37
Build 362234,315,431 - 234,315,668RGDNCBI36
Celera2228,371,311 - 228,371,548RGD
Cytogenetic Map2q37UniSTS
HuRef2226,450,535 - 226,450,772UniSTS
REN46077  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,650,466 - 234,650,712UniSTSGRCh37
Build 362234,315,205 - 234,315,451RGDNCBI36
Celera2228,371,085 - 228,371,331RGD
Cytogenetic Map2q37UniSTS
HuRef2226,450,309 - 226,450,555UniSTS
REN46078  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,650,241 - 234,650,487UniSTSGRCh37
Build 362234,314,980 - 234,315,226RGDNCBI36
Celera2228,370,860 - 228,371,106RGD
Cytogenetic Map2q37UniSTS
HuRef2226,450,084 - 226,450,330UniSTS
REN46079  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,649,983 - 234,650,227UniSTSGRCh37
Build 362234,314,722 - 234,314,966RGDNCBI36
Celera2228,370,602 - 228,370,846RGD
Cytogenetic Map2q37UniSTS
HuRef2226,449,826 - 226,450,070UniSTS
REN46080  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,649,772 - 234,650,007UniSTSGRCh37
Build 362234,314,511 - 234,314,746RGDNCBI36
Celera2228,370,391 - 228,370,626RGD
Cytogenetic Map2q37UniSTS
HuRef2226,449,615 - 226,449,850UniSTS
REN46081  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,649,521 - 234,649,757UniSTSGRCh37
Build 362234,314,260 - 234,314,496RGDNCBI36
Celera2228,370,140 - 228,370,376RGD
Cytogenetic Map2q37UniSTS
HuRef2226,449,364 - 226,449,600UniSTS
REN46082  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,649,297 - 234,649,544UniSTSGRCh37
Build 362234,314,036 - 234,314,283RGDNCBI36
Celera2228,369,916 - 228,370,163RGD
Cytogenetic Map2q37UniSTS
HuRef2226,449,140 - 226,449,387UniSTS
REN46083  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,649,069 - 234,649,319UniSTSGRCh37
Build 362234,313,808 - 234,314,058RGDNCBI36
Celera2228,369,688 - 228,369,938RGD
Cytogenetic Map2q37UniSTS
HuRef2226,448,912 - 226,449,162UniSTS
REN46084  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,648,853 - 234,649,089UniSTSGRCh37
Build 362234,313,592 - 234,313,828RGDNCBI36
Celera2228,369,472 - 228,369,708RGD
Cytogenetic Map2q37UniSTS
HuRef2226,448,696 - 226,448,932UniSTS
REN46085  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,648,502 - 234,648,762UniSTSGRCh37
Build 362234,313,241 - 234,313,501RGDNCBI36
Celera2228,369,121 - 228,369,381RGD
Cytogenetic Map2q37UniSTS
HuRef2226,448,345 - 226,448,605UniSTS
REN46086  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,659,942 - 234,660,174UniSTSGRCh37
GRCh372234,648,277 - 234,648,517UniSTSGRCh37
Build 362234,313,016 - 234,313,256RGDNCBI36
Celera2228,380,561 - 228,380,793UniSTS
Celera2228,368,896 - 228,369,136RGD
Cytogenetic Map2q37UniSTS
HuRef2226,448,120 - 226,448,360UniSTS
HuRef2226,459,785 - 226,460,017UniSTS
REN46087  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,647,955 - 234,648,187UniSTSGRCh37
Build 362234,312,694 - 234,312,926RGDNCBI36
Celera2228,368,574 - 228,368,806RGD
Cytogenetic Map2q37UniSTS
HuRef1020,264,728 - 20,264,959UniSTS
HuRef2226,447,798 - 226,448,030UniSTS
REN46088  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,647,752 - 234,647,978UniSTSGRCh37
Build 362234,312,491 - 234,312,717RGDNCBI36
Celera2228,368,371 - 228,368,597RGD
Cytogenetic Map2q37UniSTS
HuRef2226,447,595 - 226,447,821UniSTS
REN46089  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,647,239 - 234,647,489UniSTSGRCh37
Build 362234,311,978 - 234,312,228RGDNCBI36
Celera2228,367,858 - 228,368,108RGD
Cytogenetic Map2q37UniSTS
HuRef2226,447,082 - 226,447,332UniSTS
REN46090  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,646,888 - 234,647,145UniSTSGRCh37
Build 362234,311,627 - 234,311,884RGDNCBI36
Celera2228,367,507 - 228,367,764RGD
Cytogenetic Map2q37UniSTS
HuRef2226,446,731 - 226,446,988UniSTS
REN46091  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,646,576 - 234,646,805UniSTSGRCh37
Build 362234,311,315 - 234,311,544RGDNCBI36
Celera2228,367,195 - 228,367,424RGD
Cytogenetic Map2q37UniSTS
HuRef2226,446,419 - 226,446,648UniSTS
REN46092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,646,336 - 234,646,562UniSTSGRCh37
Build 362234,311,075 - 234,311,301RGDNCBI36
Celera2228,366,955 - 228,367,181RGD
Cytogenetic Map2q37UniSTS
HuRef2226,446,179 - 226,446,405UniSTS
REN46093  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,646,101 - 234,646,339UniSTSGRCh37
Build 362234,310,840 - 234,311,078RGDNCBI36
Celera2228,366,720 - 228,366,958RGD
Cytogenetic Map2q37UniSTS
HuRef2226,445,944 - 226,446,182UniSTS
REN46094  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,645,753 - 234,646,015UniSTSGRCh37
Build 362234,310,492 - 234,310,754RGDNCBI36
Celera2228,366,372 - 228,366,634RGD
Cytogenetic Map2q37UniSTS
HuRef2226,445,596 - 226,445,858UniSTS
REN46095  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,645,463 - 234,645,703UniSTSGRCh37
Build 362234,310,202 - 234,310,442RGDNCBI36
Celera2228,366,082 - 228,366,322RGD
Cytogenetic Map2q37UniSTS
HuRef2226,445,306 - 226,445,546UniSTS
REN46096  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,645,091 - 234,645,323UniSTSGRCh37
Build 362234,309,830 - 234,310,062RGDNCBI36
Celera2228,365,710 - 228,365,942RGD
Cytogenetic Map2q37UniSTS
HuRef2226,444,934 - 226,445,166UniSTS
REN46097  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,644,832 - 234,645,063UniSTSGRCh37
Build 362234,309,571 - 234,309,802RGDNCBI36
Celera2228,365,451 - 228,365,682RGD
Cytogenetic Map2q37UniSTS
HuRef2226,444,675 - 226,444,906UniSTS
REN46098  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,644,186 - 234,644,439UniSTSGRCh37
Build 362234,308,925 - 234,309,178RGDNCBI36
Celera2228,364,805 - 228,365,058RGD
Cytogenetic Map2q37UniSTS
HuRef2226,444,029 - 226,444,282UniSTS
REN46100  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,643,488 - 234,643,735UniSTSGRCh37
Build 362234,308,227 - 234,308,474RGDNCBI36
Celera2228,364,107 - 228,364,354RGD
Cytogenetic Map2q37UniSTS
HuRef2226,443,331 - 226,443,578UniSTS
REN46101  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,643,076 - 234,643,304UniSTSGRCh37
Build 362234,307,815 - 234,308,043RGDNCBI36
Celera2228,363,695 - 228,363,923RGD
Cytogenetic Map2q37UniSTS
HuRef2226,442,919 - 226,443,147UniSTS
REN46102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,642,342 - 234,642,589UniSTSGRCh37
Build 362234,307,081 - 234,307,328RGDNCBI36
Celera2228,362,961 - 228,363,208RGD
Cytogenetic Map2q37UniSTS
HuRef2226,442,185 - 226,442,432UniSTS
REN46103  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,642,141 - 234,642,365UniSTSGRCh37
Build 362234,306,880 - 234,307,104RGDNCBI36
Celera2228,362,760 - 228,362,984RGD
Cytogenetic Map2q37UniSTS
HuRef2226,441,984 - 226,442,208UniSTS
REN46104  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,641,276 - 234,641,507UniSTSGRCh37
Build 362234,306,015 - 234,306,246RGDNCBI36
Celera2228,361,895 - 228,362,126RGD
Cytogenetic Map2q37UniSTS
HuRef2226,441,119 - 226,441,350UniSTS
REN46105  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,639,899 - 234,640,148UniSTSGRCh37
Build 362234,304,638 - 234,304,887RGDNCBI36
Celera2228,360,518 - 228,360,767RGD
Cytogenetic Map2q37UniSTS
HuRef2226,439,742 - 226,439,991UniSTS
REN46106  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,639,699 - 234,639,923UniSTSGRCh37
Build 362234,304,438 - 234,304,662RGDNCBI36
Celera2228,360,318 - 228,360,542RGD
Cytogenetic Map2q37UniSTS
HuRef2226,439,542 - 226,439,766UniSTS
REN46107  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,639,467 - 234,639,713UniSTSGRCh37
Build 362234,304,206 - 234,304,452RGDNCBI36
Celera2228,360,086 - 228,360,332RGD
Cytogenetic Map2q37UniSTS
HuRef2226,439,310 - 226,439,556UniSTS
REN46108  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,639,247 - 234,639,487UniSTSGRCh37
Build 362234,303,986 - 234,304,226RGDNCBI36
Celera2228,359,866 - 228,360,106RGD
Cytogenetic Map2q37UniSTS
HuRef2226,439,090 - 226,439,330UniSTS
REN46109  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,639,010 - 234,639,238UniSTSGRCh37
Build 362234,303,749 - 234,303,977RGDNCBI36
Celera2228,359,629 - 228,359,857RGD
Cytogenetic Map2q37UniSTS
HuRef2226,438,853 - 226,439,081UniSTS
REN46110  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,638,750 - 234,638,992UniSTSGRCh37
Build 362234,303,489 - 234,303,731RGDNCBI36
Celera2228,359,369 - 228,359,611RGD
Cytogenetic Map2q37UniSTS
HuRef2226,438,593 - 226,438,835UniSTS
REN46111  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,638,498 - 234,638,757UniSTSGRCh37
Build 362234,303,237 - 234,303,496RGDNCBI36
Celera2228,359,117 - 228,359,376RGD
Cytogenetic Map2q37UniSTS
HuRef2226,438,341 - 226,438,600UniSTS
REN46112  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,638,221 - 234,638,453UniSTSGRCh37
GRCh372234,627,915 - 234,628,147UniSTSGRCh37
Build 362234,292,654 - 234,292,886RGDNCBI36
Celera2228,358,840 - 228,359,072UniSTS
Celera2228,348,534 - 228,348,766RGD
Cytogenetic Map2q37UniSTS
HuRef2226,427,909 - 226,428,141UniSTS
HuRef2226,438,064 - 226,438,296UniSTS
REN46114  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,637,710 - 234,637,964UniSTSGRCh37
Build 362234,302,449 - 234,302,703RGDNCBI36
Celera2228,358,329 - 228,358,583RGD
Cytogenetic Map2q37UniSTS
HuRef2226,437,553 - 226,437,807UniSTS
REN46115  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,637,482 - 234,637,731UniSTSGRCh37
Build 362234,302,221 - 234,302,470RGDNCBI36
Celera2228,358,101 - 228,358,350RGD
Cytogenetic Map2q37UniSTS
HuRef2226,437,325 - 226,437,574UniSTS
REN46116  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,637,260 - 234,637,504UniSTSGRCh37
Build 362234,301,999 - 234,302,243RGDNCBI36
Celera2228,357,879 - 228,358,123RGD
Cytogenetic Map2q37UniSTS
HuRef2226,437,103 - 226,437,347UniSTS
REN46117  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,637,036 - 234,637,283UniSTSGRCh37
GRCh372234,626,726 - 234,626,978UniSTSGRCh37
Build 362234,291,465 - 234,291,717RGDNCBI36
Celera2228,357,655 - 228,357,902UniSTS
Celera2228,347,345 - 228,347,597RGD
Cytogenetic Map2q37UniSTS
HuRef2226,426,720 - 226,426,972UniSTS
HuRef2226,436,879 - 226,437,126UniSTS
REN46118  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,636,798 - 234,637,059UniSTSGRCh37
GRCh372234,626,464 - 234,626,749UniSTSGRCh37
Build 362234,291,203 - 234,291,488RGDNCBI36
Celera2228,357,417 - 228,357,678UniSTS
Celera2228,347,083 - 228,347,368RGD
Cytogenetic Map2q37UniSTS
HuRef2226,426,458 - 226,426,743UniSTS
HuRef2226,436,641 - 226,436,902UniSTS
REN46119  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,636,560 - 234,636,821UniSTSGRCh37
Build 362234,301,299 - 234,301,560RGDNCBI36
Celera2228,357,179 - 228,357,440RGD
Cytogenetic Map2q37UniSTS
HuRef2226,436,403 - 226,436,664UniSTS
REN46120  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,636,358 - 234,636,584UniSTSGRCh37
Build 362234,301,097 - 234,301,323RGDNCBI36
Celera2228,356,977 - 228,357,203RGD
Cytogenetic Map2q37UniSTS
HuRef2226,436,201 - 226,436,427UniSTS
REN46121  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,636,150 - 234,636,380UniSTSGRCh37
Build 362234,300,889 - 234,301,119RGDNCBI36
Celera2228,356,769 - 228,356,999RGD
Cytogenetic Map2q37UniSTS
HuRef2226,435,993 - 226,436,223UniSTS
REN46122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,635,918 - 234,636,174UniSTSGRCh37
Build 362234,300,657 - 234,300,913RGDNCBI36
Celera2228,356,537 - 228,356,793RGD
Cytogenetic Map2q37UniSTS
HuRef2226,435,761 - 226,436,017UniSTS
REN46167  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,656,374 - 234,656,621UniSTSGRCh37
GRCh372234,622,153 - 234,622,400UniSTSGRCh37
Build 362234,286,892 - 234,287,139RGDNCBI36
Celera2228,376,993 - 228,377,240UniSTS
Celera2228,342,772 - 228,343,019RGD
Cytogenetic Map2q37UniSTS
HuRef2226,422,147 - 226,422,394UniSTS
HuRef2226,456,217 - 226,456,464UniSTS
UGT1A1_286.2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,681,263 - 234,682,056UniSTSGRCh37
Build 362234,346,002 - 234,346,795RGDNCBI36
Celera2228,401,895 - 228,402,688RGD
HuRef2226,481,097 - 226,481,890UniSTS
UGT1A10_9802  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,681,300 - 234,682,056UniSTSGRCh37
Build 362234,346,039 - 234,346,795RGDNCBI36
Celera2228,401,932 - 228,402,688RGD
HuRef2226,481,134 - 226,481,890UniSTS
D2S2843  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,681,656 - 234,681,876UniSTSGRCh37
Build 362234,346,395 - 234,346,615RGDNCBI36
Celera2228,402,288 - 228,402,508RGD
Cytogenetic Map2q37UniSTS
HuRef2226,481,490 - 226,481,710UniSTS
RH68970  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,681,394 - 234,681,611UniSTSGRCh37
Build 362234,346,133 - 234,346,350RGDNCBI36
Celera2228,402,026 - 228,402,243RGD
Cytogenetic Map2q37UniSTS
HuRef2226,481,228 - 226,481,445UniSTS
GeneMap99-GB4 RH Map2722.3UniSTS
stSG620117  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,636,021 - 234,637,247UniSTSGRCh37
Build 362234,300,760 - 234,301,986RGDNCBI36
Celera2228,356,640 - 228,357,866RGD
HuRef2226,435,864 - 226,437,090UniSTS
stSG620119  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,638,643 - 234,639,926UniSTSGRCh37
Build 362234,303,382 - 234,304,665RGDNCBI36
Celera2228,359,262 - 228,360,545RGD
HuRef2226,438,486 - 226,439,769UniSTS
stSG620120  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,646,333 - 234,646,609UniSTSGRCh37
Build 362234,311,072 - 234,311,348RGDNCBI36
Celera2228,366,952 - 228,367,228RGD
HuRef2226,446,176 - 226,446,452UniSTS
stSG620121  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,649,040 - 234,650,061UniSTSGRCh37
Build 362234,313,779 - 234,314,800RGDNCBI36
Celera2228,369,659 - 228,370,680RGD
HuRef2226,448,883 - 226,449,904UniSTS
stSG620122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,650,045 - 234,651,304UniSTSGRCh37
Build 362234,314,784 - 234,316,043RGDNCBI36
Celera2228,370,664 - 228,371,923RGD
HuRef2226,449,888 - 226,451,147UniSTS
stSG620123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,651,285 - 234,652,445UniSTSGRCh37
Build 362234,316,024 - 234,317,184RGDNCBI36
Celera2228,371,904 - 228,373,064RGD
HuRef2226,451,128 - 226,452,288UniSTS
stSG620124  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,652,437 - 234,653,810UniSTSGRCh37
Build 362234,317,176 - 234,318,549RGDNCBI36
Celera2228,373,056 - 228,374,429RGD
HuRef2226,452,280 - 226,453,653UniSTS
stSG620128  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,657,236 - 234,658,235UniSTSGRCh37
Build 362234,321,975 - 234,322,974RGDNCBI36
Celera2228,377,855 - 228,378,854RGD
HuRef2226,457,079 - 226,458,078UniSTS
stSG620129  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,660,688 - 234,661,752UniSTSGRCh37
Build 362234,325,427 - 234,326,491RGDNCBI36
Celera2228,381,307 - 228,382,371RGD
HuRef2226,460,531 - 226,461,595UniSTS
stSG620130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,661,888 - 234,662,889UniSTSGRCh37
Build 362234,326,627 - 234,327,628RGDNCBI36
Celera2228,382,507 - 228,383,508RGD
HuRef2226,461,731 - 226,462,732UniSTS
stSG620131  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,662,870 - 234,664,225UniSTSGRCh37
GRCh372234,651,515 - 234,652,874UniSTSGRCh37
Build 362234,316,254 - 234,317,613RGDNCBI36
Celera2228,383,489 - 228,384,844UniSTS
Celera2228,372,134 - 228,373,493RGD
Cytogenetic Map2q37.1UniSTS
HuRef2226,451,358 - 226,452,717UniSTS
HuRef2226,462,713 - 226,464,068UniSTS
stSG620132  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,664,206 - 234,665,600UniSTSGRCh37
GRCh372234,652,855 - 234,654,242UniSTSGRCh37
Build 362234,317,594 - 234,318,981RGDNCBI36
Celera2228,384,825 - 228,386,217UniSTS
Celera2228,373,474 - 228,374,861RGD
Cytogenetic Map2q37.1UniSTS
HuRef2226,452,698 - 226,454,085UniSTS
HuRef2226,464,049 - 226,465,443UniSTS
stSG620134  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,666,794 - 234,668,229UniSTSGRCh37
Build 362234,331,533 - 234,332,968RGDNCBI36
Celera2228,387,427 - 228,388,862RGD
HuRef2226,466,643 - 226,468,078UniSTS
stSG620136  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,669,571 - 234,670,642UniSTSGRCh37
Build 362234,334,310 - 234,335,381RGDNCBI36
Celera2228,390,204 - 228,391,275RGD
HuRef2226,469,420 - 226,470,491UniSTS
stSG620137  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,670,623 - 234,672,076UniSTSGRCh37
Build 362234,335,362 - 234,336,815RGDNCBI36
Celera2228,391,256 - 228,392,709RGD
HuRef2226,470,472 - 226,471,925UniSTS
stSG620138  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,672,057 - 234,673,237UniSTSGRCh37
Build 362234,336,796 - 234,337,976RGDNCBI36
Celera2228,392,690 - 228,393,870RGD
HuRef2226,471,906 - 226,473,086UniSTS
stSG620140  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,674,396 - 234,675,407UniSTSGRCh37
Build 362234,339,135 - 234,340,146RGDNCBI36
Celera2228,395,029 - 228,396,040RGD
HuRef2226,474,245 - 226,475,242UniSTS
stSG620141  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,675,390 - 234,676,573UniSTSGRCh37
Build 362234,340,129 - 234,341,312RGDNCBI36
Celera2228,396,023 - 228,397,206RGD
HuRef2226,475,225 - 226,476,408UniSTS
stSG620142  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,676,554 - 234,678,005UniSTSGRCh37
Build 362234,341,293 - 234,342,744RGDNCBI36
Celera2228,397,187 - 228,398,637RGD
HuRef2226,476,389 - 226,477,839UniSTS
stSG620143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,677,907 - 234,678,907UniSTSGRCh37
Build 362234,342,646 - 234,343,646RGDNCBI36
Celera2228,398,539 - 228,399,539RGD
HuRef2226,477,741 - 226,478,741UniSTS
stSG620145  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,680,194 - 234,680,428UniSTSGRCh37
Build 362234,344,933 - 234,345,167RGDNCBI36
Celera2228,400,826 - 228,401,060RGD
HuRef2226,480,028 - 226,480,262UniSTS
stSG620146  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,680,446 - 234,681,447UniSTSGRCh37
Build 362234,345,185 - 234,346,186RGDNCBI36
Celera2228,401,078 - 228,402,079RGD
HuRef2226,480,280 - 226,481,281UniSTS
REN46113  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q37UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:295
Count of miRNA genes:258
Interacting mature miRNAs:269
Transcripts:ENST00000482026
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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 adipose tissue appendage
High
Medium 1 17 17 17
Low 73 1 246 246 54 248 14 1 13 9 9 4
Below cutoff 296 29 147 143 67 130 432 25 33 90 171 62 19 19 221

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_002601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_019093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB120359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB120360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB120361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB120362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC114812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF297093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF465192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF465193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF465194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY435138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY705979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY724442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY724443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY724444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY724445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY724446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY724447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY724448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY724449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY724450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY724451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY724452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY724453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY724454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY724455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ364248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ408603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ408604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M84127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000482026   ⟹   ENSP00000418532
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,729,042 - 233,773,300 (+)Ensembl
RefSeq Acc Id: NM_019093   ⟹   NP_061966
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,729,042 - 233,773,300 (+)NCBI
GRCh372234,637,773 - 234,681,945 (+)ENTREZGENE
Build 362234,302,512 - 234,346,684 (+)NCBI Archive
HuRef2226,437,616 - 226,481,779 (+)ENTREZGENE
CHM1_12234,643,587 - 234,687,806 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_061966 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA92020 (Get FASTA)   NCBI Sequence Viewer  
  AAG30423 (Get FASTA)   NCBI Sequence Viewer  
  AAL73500 (Get FASTA)   NCBI Sequence Viewer  
  AAL73501 (Get FASTA)   NCBI Sequence Viewer  
  AAL73502 (Get FASTA)   NCBI Sequence Viewer  
  AAR95639 (Get FASTA)   NCBI Sequence Viewer  
  AAT94066 (Get FASTA)   NCBI Sequence Viewer  
  AAY32612 (Get FASTA)   NCBI Sequence Viewer  
  AAY32613 (Get FASTA)   NCBI Sequence Viewer  
  AAY32614 (Get FASTA)   NCBI Sequence Viewer  
  AAY32615 (Get FASTA)   NCBI Sequence Viewer  
  AAY32616 (Get FASTA)   NCBI Sequence Viewer  
  AAY32617 (Get FASTA)   NCBI Sequence Viewer  
  AAY32618 (Get FASTA)   NCBI Sequence Viewer  
  AAY32619 (Get FASTA)   NCBI Sequence Viewer  
  AAY32620 (Get FASTA)   NCBI Sequence Viewer  
  AAY32621 (Get FASTA)   NCBI Sequence Viewer  
  AAY32622 (Get FASTA)   NCBI Sequence Viewer  
  AAY32623 (Get FASTA)   NCBI Sequence Viewer  
  AAY32624 (Get FASTA)   NCBI Sequence Viewer  
  AAY32625 (Get FASTA)   NCBI Sequence Viewer  
  ABC96772 (Get FASTA)   NCBI Sequence Viewer  
  ABD60346 (Get FASTA)   NCBI Sequence Viewer  
  ABD60347 (Get FASTA)   NCBI Sequence Viewer  
  BAD12517 (Get FASTA)   NCBI Sequence Viewer  
  BAD12518 (Get FASTA)   NCBI Sequence Viewer  
  BAD12519 (Get FASTA)   NCBI Sequence Viewer  
  BAD12520 (Get FASTA)   NCBI Sequence Viewer  
  EAW71060 (Get FASTA)   NCBI Sequence Viewer  
  P35503 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_061966   ⟸   NM_019093
- Peptide Label: precursor
- UniProtKB: P35503 (UniProtKB/Swiss-Prot),   Q5DT01 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000418532   ⟸   ENST00000482026
Protein Domains
UDPGT

Promoters
RGD ID:6863164
Promoter ID:EPDNEW_H4747
Type:initiation region
Name:UGT1A3_1
Description:UDP glucuronosyltransferase family 1 member A3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,729,084 - 233,729,144EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000463.3(UGT1A1):c.907G>A (p.Val303Met) single nucleotide variant not provided [RCV000728134] Chr2:233767076 [GRCh38]
Chr2:234675722 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.1174C>T (p.Pro392Ser) single nucleotide variant not provided [RCV000729132] Chr2:233768309 [GRCh38]
Chr2:234676955 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.991C>T (p.Gln331Ter) single nucleotide variant Crigler-Najjar syndrome type 1 [RCV000013055] Chr2:233767160 [GRCh38]
Chr2:234675806 [GRCh37]
Chr2:2q37.1
pathogenic
NM_000463.3(UGT1A1):c.1021C>T (p.Arg341Ter) single nucleotide variant Crigler-Najjar syndrome type 1 [RCV000013056]|Gilbert syndrome [RCV000013057] Chr2:233767873 [GRCh38]
Chr2:234676519 [GRCh37]
Chr2:2q37.1
pathogenic|affects
NM_000463.3(UGT1A1):c.992A>G (p.Gln331Arg) single nucleotide variant Crigler-Najjar syndrome, type II [RCV000013058] Chr2:233767161 [GRCh38]
Chr2:234675807 [GRCh37]
Chr2:2q37.1
pathogenic
NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp) single nucleotide variant Bilirubin, serum level of, quantitative trait locus 1 [RCV000763480]|Crigler-Najjar syndrome, type II [RCV000013074]|Gilbert syndrome [RCV000999563]|Hyperbilirubinemia [RCV000147900]|Lucey-Driscoll syndrome [RCV000013073]|none provided [RCV001287858] Chr2:233772413 [GRCh38]
Chr2:234681059 [GRCh37]
Chr2:2q37.1
pathogenic|likely pathogenic
NM_000463.3(UGT1A1):c.1070A>G (p.Gln357Arg) single nucleotide variant Crigler-Najjar syndrome type 1 [RCV000013076] Chr2:233767922 [GRCh38]
Chr2:234676568 [GRCh37]
Chr2:2q37.1
pathogenic
NM_000463.3(UGT1A1):c.1198A>G (p.Asn400Asp) single nucleotide variant Crigler-Najjar syndrome, type II [RCV000013079]|Gilbert syndrome [RCV000013080]|UGT1A1-Related Disorders [RCV000779315] Chr2:233768333 [GRCh38]
Chr2:234676979 [GRCh37]
Chr2:2q37.1
pathogenic|affects|uncertain significance
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000050304] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1(chr2:233420162-233761780)x3 copy number gain See cases [RCV000050828] Chr2:233420162..233761780 [GRCh38]
Chr2:234229606..234670426 [GRCh37]
Chr2:233894345..234335165 [NCBI36]
Chr2:2q37.1
uncertain significance
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1 copy number loss See cases [RCV000052638] Chr2:227343278..235339168 [GRCh38]
Chr2:228207994..236247812 [GRCh37]
Chr2:227916238..235912551 [NCBI36]
Chr2:2q36.3-37.2
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231375505-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|See cases [RCV000052639] Chr2:231375505..242065208 [GRCh38]
Chr2:232240216..243007359 [GRCh37]
Chr2:231948460..242656032 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:232857728-242065349)x1 copy number loss See cases [RCV000052640] Chr2:232857728..242065349 [GRCh38]
Chr2:233722438..243007500 [GRCh37]
Chr2:233430682..242656173 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1 copy number loss See cases [RCV000052637] Chr2:226978129..236886599 [GRCh38]
Chr2:227842845..237795242 [GRCh37]
Chr2:227551089..237459981 [NCBI36]
Chr2:2q36.3-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1 copy number loss See cases [RCV000052641] Chr2:233420162..242086301 [GRCh38]
Chr2:233995840..243028452 [GRCh37]
Chr2:233704084..242677125 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1 copy number loss See cases [RCV000052642] Chr2:233453611..242099155 [GRCh38]
Chr2:234362257..243041306 [GRCh37]
Chr2:234026996..242689979 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972] Chr2:223992431..242126245 [GRCh38]
Chr2:224857148..243059659 [GRCh37]
Chr2:224565392..242717069 [NCBI36]
Chr2:2q36.1-37.3
pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3 copy number gain See cases [RCV000052973] Chr2:227803148..242086301 [GRCh38]
Chr2:228667864..243028452 [GRCh37]
Chr2:228376108..242677125 [NCBI36]
Chr2:2q36.3-37.3
pathogenic
GRCh38/hg38 2q37.1(chr2:233687049-234225737)x1 copy number loss See cases [RCV000053813] Chr2:233687049..234225737 [GRCh38]
Chr2:234595695..235134381 [GRCh37]
Chr2:234260434..234799120 [NCBI36]
Chr2:2q37.1
uncertain significance
NM_000463.2(UGT1A1):c.347T>A (p.Ile116Lys) single nucleotide variant Malignant melanoma [RCV000060519] Chr2:233760634 [GRCh38]
Chr2:234669280 [GRCh37]
Chr2:234334019 [NCBI36]
Chr2:2q37.1
not provided
NM_000463.3(UGT1A1):c.1075G>A (p.Asp359Asn) single nucleotide variant Gilbert syndrome [RCV001733511] Chr2:233767927 [GRCh38]
Chr2:234676573 [GRCh37]
Chr2:234341312 [NCBI36]
Chr2:2q37.1
uncertain significance|not provided
NM_000463.3(UGT1A1):c.1567C>T (p.Arg523Ter) single nucleotide variant Crigler-Najjar syndrome [RCV000661992]|not provided [RCV000661993] Chr2:233772524 [GRCh38]
Chr2:234681170 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.1124C>T (p.Ser375Phe) single nucleotide variant Crigler-Najjar syndrome type 1 [RCV000013054] Chr2:233768259 [GRCh38]
Chr2:234676905 [GRCh37]
Chr2:2q37.1
pathogenic
NM_000463.3(UGT1A1):c.510CTT[1] (p.Phe171del) microsatellite Crigler-Najjar syndrome type 1 [RCV000013059] Chr2:233760795..233760797 [GRCh38]
Chr2:234669441..234669443 [GRCh37]
Chr2:2q37.1
pathogenic
NM_000463.3(UGT1A1):c.923G>A (p.Gly308Glu) single nucleotide variant Crigler-Najjar syndrome type 1 [RCV000013060] Chr2:233767092 [GRCh38]
Chr2:234675738 [GRCh37]
Chr2:2q37.1
pathogenic
NM_000463.3(UGT1A1):c.840C>A (p.Cys280Ter) single nucleotide variant Crigler-Najjar syndrome type 1 [RCV000013061] Chr2:233761127 [GRCh38]
Chr2:234669773 [GRCh37]
Chr2:2q37.1
pathogenic
UGT1A1*28 microsatellite Bilirubin, serum level of, quantitative trait locus 1 [RCV000022809]|Bilirubin, serum level of, quantitative trait locus 1 [RCV001269334]|Crigler-Najjar syndrome, type II [RCV000013065]|Gilbert syndrome [RCV000013064]|Irinotecan response [RCV000664404]|Lucey-Driscoll syndrome [RCV000022808]|not provided [RCV001093257]|not specified [RCV000249621] Chr2:233760233..233760234 [GRCh38]
Chr2:234668881 [GRCh37]
Chr2:2q37.1
pathogenic|association|affects|benign|conflicting interpretations of pathogenicity|drug response|other
NM_000463.3(UGT1A1):c.474_475insT (p.Ile159fs) insertion Crigler-Najjar syndrome type 1 [RCV000013067] Chr2:233760761..233760762 [GRCh38]
Chr2:234669407..234669408 [GRCh37]
Chr2:2q37.1
pathogenic
NM_000463.3(UGT1A1):c.864+1G>C single nucleotide variant Crigler-Najjar syndrome type 1 [RCV000013068]|not provided [RCV000731416] Chr2:233761152 [GRCh38]
Chr2:234669798 [GRCh37]
Chr2:2q37.1
pathogenic
NM_000463.3(UGT1A1):c.145C>T (p.Gln49Ter) single nucleotide variant Crigler-Najjar syndrome type 1 [RCV000013069] Chr2:233760432 [GRCh38]
Chr2:234669078 [GRCh37]
Chr2:2q37.1
pathogenic
NM_000463.3(UGT1A1):c.1085-2A>G single nucleotide variant Crigler-Najjar syndrome type 1 [RCV000013070] Chr2:233768218 [GRCh38]
Chr2:234676864 [GRCh37]
Chr2:2q37.1
pathogenic
NM_000463.3(UGT1A1):c.524T>A (p.Leu175Gln) single nucleotide variant Crigler-Najjar syndrome, type II [RCV000013078]|not provided [RCV000726992] Chr2:233760811 [GRCh38]
Chr2:234669457 [GRCh37]
Chr2:2q37.1
pathogenic|other
NM_000463.3(UGT1A1):c.44T>G (p.Leu15Arg) single nucleotide variant Crigler-Najjar syndrome, type II [RCV000013081]|not provided [RCV001529911] Chr2:233760331 [GRCh38]
Chr2:234668977 [GRCh37]
Chr2:2q37.1
pathogenic
NM_000463.3(UGT1A1):c.877_890delinsA (p.Tyr293fs) indel Crigler-Najjar syndrome type 1 [RCV000013053]|not provided [RCV000594259] Chr2:233767046..233767059 [GRCh38]
Chr2:234675692..234675705 [GRCh37]
Chr2:2q37.1
pathogenic
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) single nucleotide variant Crigler-Najjar syndrome, type II [RCV000013063]|Gilbert syndrome [RCV000013062]|none provided [RCV001281856]|not provided [RCV000299521]|not specified [RCV000147905] Chr2:233760973 [GRCh38]
Chr2:234669619 [GRCh37]
Chr2:2q37.1
pathogenic|affects|benign|conflicting interpretations of pathogenicity|other
UGT1A1*6 single nucleotide variant Bilirubin, serum level of, quantitative trait locus 1 [RCV000022811]|Crigler-Najjar syndrome, type II [RCV000987059]|Gilbert syndrome [RCV000013071]|Irinotecan response [RCV000664403]|Lucey-Driscoll syndrome [RCV000022810]|not provided [RCV001508487]|not specified [RCV000173139] Chr2:233760498 [GRCh38]
Chr2:234669144 [GRCh37]
Chr2:2q37.1
pathogenic|likely pathogenic|association|affects|benign|likely benign|conflicting interpretations of pathogenicity|drug response|other
NM_001072.4(UGT1A6):c.862-8098= single nucleotide variant Lucey-Driscoll syndrome [RCV000013075] Chr2:233758936 [GRCh38]
Chr2:234667582 [GRCh37]
Chr2:2q37.1
pathogenic
NM_001072.4(UGT1A6):c.862-10021T>G single nucleotide variant Gilbert syndrome [RCV000999557]|Gilbert syndrome, susceptibility to [RCV000013082]|none provided [RCV000508403] Chr2:233757013 [GRCh38]
Chr2:234665659 [GRCh37]
Chr2:2q37.1
pathogenic|likely pathogenic|risk factor|benign
NM_000463.3(UGT1A1):c.864+2842G>T single nucleotide variant Bilirubin, serum level of, quantitative trait locus 1 [RCV000013083]|Gilbert syndrome [RCV000999560] Chr2:233763993 [GRCh38]
Chr2:234672639 [GRCh37]
Chr2:2q37.1
association|benign
GRCh37/hg19 2q37.1-37.3(chr2:233784243-243040217)x1 copy number loss See cases [RCV000446034] Chr2:233784243..243040217 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
NM_000463.3(UGT1A1):c.864+2925T>G single nucleotide variant Gilbert syndrome [RCV000999561] Chr2:233764076 [GRCh38]
Chr2:234672722 [GRCh37]
Chr2:2q37.1
benign
NM_001072.4(UGT1A6):c.862-9898G>A single nucleotide variant Gilbert syndrome [RCV000999558]|irinotecan response - Toxicity [RCV001788391] Chr2:233757136 [GRCh38]
Chr2:234665782 [GRCh37]
Chr2:2q37.1
likely benign|drug response
NM_001072.4(UGT1A6):c.862-7110C>T single nucleotide variant atazanavir response - Other [RCV000211430] Chr2:233759924 [GRCh38]
Chr2:234668570 [GRCh37]
Chr2:2q37.1
drug response
NM_000463.3(UGT1A1):c.353dup (p.Asp119fs) duplication Crigler-Najjar syndrome type 1 [RCV000256423]|Inborn genetic diseases [RCV000622908] Chr2:233760634..233760635 [GRCh38]
Chr2:234669280..234669281 [GRCh37]
Chr2:2q37.1
pathogenic|likely pathogenic
NC_000002.11:g.234668881_234668882TA[5][6][7][8] microsatellite SN-38 response - Other [RCV000211306]|atazanavir and ritonavir response - Toxicity/ADR [RCV000211183]|irinotecan response - Toxicity/ADR [RCV000211397] Chr2:233760235..233760236 [GRCh38]
Chr2:234668881..234668882 [GRCh37]
Chr2:2q37.1
drug response
NM_000463.3(UGT1A1):c.1084+1G>T single nucleotide variant Hyperbilirubinemia [RCV000147893]|not provided [RCV000733614] Chr2:233767937 [GRCh38]
Chr2:234676583 [GRCh37]
Chr2:2q37.1
pathogenic
NM_000463.3(UGT1A1):c.1231G>T (p.Val411Leu) single nucleotide variant Hyperbilirubinemia [RCV000147894]|not provided [RCV000731958]|not specified [RCV001001114] Chr2:233768366 [GRCh38]
Chr2:234677012 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.1354G>T (p.Val452Leu) single nucleotide variant Hyperbilirubinemia [RCV000147895] Chr2:233772311 [GRCh38]
Chr2:234680957 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.1413G>A (p.Ala471=) single nucleotide variant Hyperbilirubinemia [RCV000147896] Chr2:233772370 [GRCh38]
Chr2:234681016 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.141C>A (p.Ile47=) single nucleotide variant Hyperbilirubinemia [RCV000147897] Chr2:233760428 [GRCh38]
Chr2:234669074 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.141C>T (p.Ile47=) single nucleotide variant Crigler-Najjar syndrome [RCV001139759]|Gilbert syndrome [RCV001139760]|Hyperbilirubinemia [RCV000147898]|Lucey-Driscoll syndrome [RCV001139758]|not provided [RCV000963286]|not specified [RCV000383880] Chr2:233760428 [GRCh38]
Chr2:234669074 [GRCh37]
Chr2:2q37.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000463.3(UGT1A1):c.1428C>T (p.Pro476=) single nucleotide variant Crigler-Najjar syndrome [RCV001140744]|Gilbert syndrome [RCV001140745]|Lucey-Driscoll syndrome [RCV001140746]|not provided [RCV000956057]|not specified [RCV000147899] Chr2:233772385 [GRCh38]
Chr2:234681031 [GRCh37]
Chr2:2q37.1
benign|likely benign|uncertain significance
NM_000463.3(UGT1A1):c.322C>T (p.Arg108Cys) single nucleotide variant Hyperbilirubinemia [RCV000147901] Chr2:233760609 [GRCh38]
Chr2:234669255 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.476T>C (p.Ile159Thr) single nucleotide variant Hyperbilirubinemia [RCV000147902] Chr2:233760763 [GRCh38]
Chr2:234669409 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.479T>A (p.Val160Glu) single nucleotide variant Crigler-Najjar syndrome type 1 [RCV001450052]|Hyperbilirubinemia [RCV000147903] Chr2:233760766 [GRCh38]
Chr2:234669412 [GRCh37]
Chr2:2q37.1
likely pathogenic|uncertain significance
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) single nucleotide variant Crigler-Najjar syndrome [RCV000348706]|Crigler-Najjar syndrome type 1 [RCV001004164]|Gilbert syndrome [RCV000313763]|Hyperbilirubinemia [RCV000147904]|Lucey-Driscoll syndrome [RCV000396791]|not provided [RCV000592026] Chr2:233760961 [GRCh38]
Chr2:234669607 [GRCh37]
Chr2:2q37.1
pathogenic|likely pathogenic|uncertain significance|other
NM_000463.3(UGT1A1):c.748T>C (p.Ser250Pro) single nucleotide variant Crigler-Najjar syndrome [RCV001140642]|Gilbert syndrome [RCV001142507]|Hyperbilirubinemia [RCV000147906]|Lucey-Driscoll syndrome [RCV001142508]|not provided [RCV000728350] Chr2:233761035 [GRCh38]
Chr2:234669681 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.996+15T>C single nucleotide variant Crigler-Najjar syndrome [RCV000299727]|Gilbert syndrome [RCV000263302]|Hyperbilirubinemia [RCV000147907]|Lucey-Driscoll syndrome [RCV000354615] Chr2:233767180 [GRCh38]
Chr2:234675826 [GRCh37]
Chr2:2q37.1
likely benign|uncertain significance
GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3 copy number gain See cases [RCV000134169] Chr2:228723579..241404867 [GRCh38]
Chr2:229588295..242344282 [GRCh37]
Chr2:229296539..241992955 [NCBI36]
Chr2:2q36.3-37.3
pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3
pathogenic
GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3 copy number gain See cases [RCV000136967] Chr2:228014149..234976424 [GRCh38]
Chr2:228878865..235885068 [GRCh37]
Chr2:228587109..235549807 [NCBI36]
Chr2:2q36.3-37.2
pathogenic
NM_021027.3(UGT1A9):c.1420G>T (p.Ala474Ser) single nucleotide variant not specified [RCV000203111] Chr2:233772386 [GRCh38]
Chr2:234681032 [GRCh37]
Chr2:2q37.1
uncertain significance
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000148260] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
NM_000463.3(UGT1A1):c.1122T>C (p.Gly374=) single nucleotide variant Crigler-Najjar syndrome [RCV000359133]|Gilbert syndrome [RCV000324135]|Lucey-Driscoll syndrome [RCV000264419]|not provided [RCV000178105] Chr2:233768257 [GRCh38]
Chr2:234676903 [GRCh37]
Chr2:2q37.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000463.3(UGT1A1):c.1352C>T (p.Pro451Leu) single nucleotide variant not provided [RCV000178772] Chr2:233772309 [GRCh38]
Chr2:234680955 [GRCh37]
Chr2:2q37.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) single nucleotide variant Bilirubin, serum level of, quantitative trait locus 1 [RCV000763479]|Crigler-Najjar syndrome type 1 [RCV001250229]|Gilbert syndrome [RCV000999562]|Hyperbilirubinemia [RCV000194762]|none provided [RCV001000056]|not provided [RCV000300556] Chr2:233768226 [GRCh38]
Chr2:234676872 [GRCh37]
Chr2:2q37.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000463.3(UGT1A1):c.238_239insGTAC (p.Pro80fs) insertion Hyperbilirubinemia [RCV000193803] Chr2:233760524..233760525 [GRCh38]
Chr2:234669170..234669171 [GRCh37]
Chr2:2q37.1
pathogenic
NM_000463.3(UGT1A1):c.722_723del (p.Glu241fs) microsatellite Crigler-Najjar syndrome type 1 [RCV001450051]|Hyperbilirubinemia [RCV000194838]|not provided [RCV000594736] Chr2:233761003..233761004 [GRCh38]
Chr2:234669649..234669650 [GRCh37]
Chr2:2q37.1
pathogenic
NM_000463.3(UGT1A1):c.1069C>T (p.Gln357Ter) single nucleotide variant not provided [RCV000378373] Chr2:233767921 [GRCh38]
Chr2:234676567 [GRCh37]
Chr2:2q37.1
pathogenic
NM_000463.3(UGT1A1):c.294T>C (p.Asn98=) single nucleotide variant Crigler-Najjar syndrome [RCV000376048]|Gilbert syndrome [RCV000321659]|Lucey-Driscoll syndrome [RCV000286475] Chr2:233760581 [GRCh38]
Chr2:234669227 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.1322T>C (p.Met441Thr) single nucleotide variant Crigler-Najjar syndrome [RCV000378763]|Gilbert syndrome [RCV000270243]|Lucey-Driscoll syndrome [RCV000325272]|not provided [RCV000732528] Chr2:233772279 [GRCh38]
Chr2:234680925 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.*339G>C single nucleotide variant Crigler-Najjar syndrome [RCV000278221]|Gilbert syndrome [RCV000404223]|Lucey-Driscoll syndrome [RCV000338732] Chr2:233772898 [GRCh38]
Chr2:234681544 [GRCh37]
Chr2:2q37.1
benign|likely benign
NM_000463.3(UGT1A1):c.*440G>C single nucleotide variant Crigler-Najjar syndrome [RCV000303713]|Gilbert syndrome [RCV000406231]|Lucey-Driscoll syndrome [RCV000358476] Chr2:233772999 [GRCh38]
Chr2:234681645 [GRCh37]
Chr2:2q37.1
benign|likely benign
NM_000463.3(UGT1A1):c.300T>C (p.Phe100=) single nucleotide variant Crigler-Najjar syndrome [RCV000341435]|Gilbert syndrome [RCV000287802]|Lucey-Driscoll syndrome [RCV000381982]|not provided [RCV000731664] Chr2:233760587 [GRCh38]
Chr2:234669233 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.*201G>A single nucleotide variant Crigler-Najjar syndrome [RCV000384335]|Gilbert syndrome [RCV000331006]|Lucey-Driscoll syndrome [RCV000289955] Chr2:233772760 [GRCh38]
Chr2:234681406 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.*211T>C single nucleotide variant Crigler-Najjar syndrome [RCV000350782]|Gilbert syndrome [RCV000295923]|Lucey-Driscoll syndrome [RCV000385532]|not provided [RCV001636937] Chr2:233772770 [GRCh38]
Chr2:234681416 [GRCh37]
Chr2:2q37.1
benign|likely benign
NM_000463.3(UGT1A1):c.477C>T (p.Ile159=) single nucleotide variant Crigler-Najjar syndrome [RCV000312449]|Gilbert syndrome [RCV000347475]|Lucey-Driscoll syndrome [RCV000405057]|not provided [RCV000598199] Chr2:233760764 [GRCh38]
Chr2:234669410 [GRCh37]
Chr2:2q37.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000463.3(UGT1A1):c.326T>C (p.Val109Ala) single nucleotide variant Crigler-Najjar syndrome [RCV001137634]|Gilbert syndrome [RCV001137635]|Lucey-Driscoll syndrome [RCV001137633]|not provided [RCV000270224] Chr2:233760613 [GRCh38]
Chr2:234669259 [GRCh37]
Chr2:2q37.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000463.3(UGT1A1):c.1099C>T (p.Arg367Cys) single nucleotide variant not provided [RCV000306415] Chr2:233768234 [GRCh38]
Chr2:234676880 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.1073A>C (p.Asn358Thr) single nucleotide variant not provided [RCV000342307] Chr2:233767925 [GRCh38]
Chr2:234676571 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.577G>A (p.Val193Met) single nucleotide variant Crigler-Najjar syndrome [RCV001140637]|Gilbert syndrome [RCV001139858]|Lucey-Driscoll syndrome [RCV001140638]|not provided [RCV000344287] Chr2:233760864 [GRCh38]
Chr2:234669510 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.138C>T (p.Ala46=) single nucleotide variant not provided [RCV000314468] Chr2:233760425 [GRCh38]
Chr2:234669071 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.575A>G (p.Tyr192Cys) single nucleotide variant not provided [RCV000315749] Chr2:233760862 [GRCh38]
Chr2:234669508 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.137C>T (p.Ala46Val) single nucleotide variant not provided [RCV000386459] Chr2:233760424 [GRCh38]
Chr2:234669070 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.540A>G (p.Glu180=) single nucleotide variant Crigler-Najjar syndrome [RCV001139856]|Gilbert syndrome [RCV001139855]|Lucey-Driscoll syndrome [RCV001139857]|not provided [RCV000727204]|not specified [RCV000389831] Chr2:233760827 [GRCh38]
Chr2:234669473 [GRCh37]
Chr2:2q37.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000463.3(UGT1A1):c.1175C>T (p.Pro392Leu) single nucleotide variant not provided [RCV000286346] Chr2:233768310 [GRCh38]
Chr2:234676956 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.1324C>T (p.Arg442Cys) single nucleotide variant Bilirubin, serum level of, quantitative trait locus 1 [RCV000765634]|Crigler-Najjar syndrome [RCV001139988]|none provided [RCV001285060]|not provided [RCV000725932] Chr2:233772281 [GRCh38]
Chr2:234680927 [GRCh37]
Chr2:2q37.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_000463.3(UGT1A1):c.1001T>A (p.Leu334Gln) single nucleotide variant not provided [RCV000594635] Chr2:233767853 [GRCh38]
Chr2:234676499 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.*585G>T single nucleotide variant Crigler-Najjar syndrome [RCV000364364]|Gilbert syndrome [RCV000304991]|Lucey-Driscoll syndrome [RCV000394302] Chr2:233773144 [GRCh38]
Chr2:234681790 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.399C>G (p.Asn133Lys) single nucleotide variant not provided [RCV000598431] Chr2:233760686 [GRCh38]
Chr2:234669332 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.835A>T (p.Asn279Tyr) single nucleotide variant Crigler-Najjar syndrome, type II [RCV000987060]|not provided [RCV000591882] Chr2:233761122 [GRCh38]
Chr2:234669768 [GRCh37]
Chr2:2q37.1
pathogenic|uncertain significance
NM_000463.3(UGT1A1):c.1459C>T (p.His487Tyr) single nucleotide variant not provided [RCV000598546] Chr2:233772416 [GRCh38]
Chr2:234681062 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.1564G>A (p.Gly522Arg) single nucleotide variant not provided [RCV000591971] Chr2:233772521 [GRCh38]
Chr2:234681167 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.189C>T (p.Asp63=) single nucleotide variant Crigler-Najjar syndrome [RCV001140532]|Gilbert syndrome [RCV001140531]|Lucey-Driscoll syndrome [RCV001140533]|not provided [RCV000596864] Chr2:233760476 [GRCh38]
Chr2:234669122 [GRCh37]
Chr2:2q37.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000463.3(UGT1A1):c.19G>A (p.Gly7Ser) single nucleotide variant not provided [RCV000592885] Chr2:233760306 [GRCh38]
Chr2:234668952 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.1208G>A (p.Arg403His) single nucleotide variant not provided [RCV000593141] Chr2:233768343 [GRCh38]
Chr2:234676989 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.801C>T (p.Pro267=) single nucleotide variant not provided [RCV000596531] Chr2:233761088 [GRCh38]
Chr2:234669734 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.1156G>A (p.Val386Ile) single nucleotide variant not provided [RCV000591349] Chr2:233768291 [GRCh38]
Chr2:234676937 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.1108A>G (p.Ile370Val) single nucleotide variant not provided [RCV000730540] Chr2:233768243 [GRCh38]
Chr2:234676889 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.838T>G (p.Cys280Gly) single nucleotide variant Crigler-Najjar syndrome [RCV001142509]|Gilbert syndrome [RCV001142511]|Lucey-Driscoll syndrome [RCV001142510]|not provided [RCV000730662] Chr2:233761125 [GRCh38]
Chr2:234669771 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.1348C>T (p.Arg450Cys) single nucleotide variant not provided [RCV000731951] Chr2:233772305 [GRCh38]
Chr2:234680951 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.142C>G (p.Gln48Glu) single nucleotide variant Crigler-Najjar syndrome [RCV001139762]|Gilbert syndrome [RCV001139763]|Lucey-Driscoll syndrome [RCV001139761]|not provided [RCV000733745] Chr2:233760429 [GRCh38]
Chr2:234669075 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.22G>A (p.Gly8Arg) single nucleotide variant not provided [RCV000733748] Chr2:233760309 [GRCh38]
Chr2:234668955 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.159G>A (p.Arg53=) single nucleotide variant not provided [RCV000734333] Chr2:233760446 [GRCh38]
Chr2:234669092 [GRCh37]
Chr2:2q37.1
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_000463.3(UGT1A1):c.1060T>A (p.Trp354Arg) single nucleotide variant Gilbert syndrome [RCV001766587]|not provided [RCV000733106] Chr2:233767912 [GRCh38]
Chr2:234676558 [GRCh37]
Chr2:2q37.1
pathogenic|uncertain significance
NM_000463.3(UGT1A1):c.1458C>T (p.Tyr486=) single nucleotide variant not provided [RCV000733119] Chr2:233772415 [GRCh38]
Chr2:234681061 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.195G>A (p.Ser65=) single nucleotide variant not provided [RCV000735145] Chr2:233760482 [GRCh38]
Chr2:234669128 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.1100G>T (p.Arg367Leu) single nucleotide variant not provided [RCV000728545] Chr2:233768235 [GRCh38]
Chr2:234676881 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_001072.4(UGT1A6):c.862-6799_862-6798insTA insertion Gilbert syndrome [RCV000999559]|not provided [RCV000730016] Chr2:233760235..233760236 [GRCh38]
Chr2:234668881..234668882 [GRCh37]
Chr2:2q37.1
pathogenic|other
NM_000463.3(UGT1A1):c.817G>T (p.Val273Phe) single nucleotide variant not provided [RCV000731403] Chr2:233761104 [GRCh38]
Chr2:234669750 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.167A>C (p.Glu56Ala) single nucleotide variant Crigler-Najjar syndrome [RCV001140529]|Gilbert syndrome [RCV001140530]|Lucey-Driscoll syndrome [RCV001140528]|not provided [RCV000732295] Chr2:233760454 [GRCh38]
Chr2:234669100 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.-4C>T single nucleotide variant not provided [RCV000733270] Chr2:233760284 [GRCh38]
Chr2:234668930 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.1110_1150delinsGC (p.Ile370_Asn384delinsMetHis) indel not provided [RCV000731500] Chr2:233768245..233768285 [GRCh38]
Chr2:234676891..234676931 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.1160_1161delinsGT (p.Pro387Arg) indel not provided [RCV000733308] Chr2:233768295..233768296 [GRCh38]
Chr2:234676941..234676942 [GRCh37]
Chr2:2q37.1
likely pathogenic
NM_000463.3(UGT1A1):c.1026A>T (p.Pro342=) single nucleotide variant not provided [RCV000734728] Chr2:233767878 [GRCh38]
Chr2:234676524 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.428G>A (p.Ser143Asn) single nucleotide variant not provided [RCV000732619] Chr2:233760715 [GRCh38]
Chr2:234669361 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.386A>G (p.His129Arg) single nucleotide variant Crigler-Najjar syndrome [RCV001137639]|Gilbert syndrome [RCV001137640]|Lucey-Driscoll syndrome [RCV001139854]|not provided [RCV000729869] Chr2:233760673 [GRCh38]
Chr2:234669319 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.1170G>A (p.Met390Ile) single nucleotide variant not provided [RCV000732927] Chr2:233768305 [GRCh38]
Chr2:234676951 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.1207C>T (p.Arg403Cys) single nucleotide variant Bilirubin, serum level of, quantitative trait locus 1 [RCV000765633]|not provided [RCV000595005] Chr2:233768342 [GRCh38]
Chr2:234676988 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.1470C>T (p.Asp490=) single nucleotide variant not provided [RCV000731910] Chr2:233772427 [GRCh38]
Chr2:234681073 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.1198A>C (p.Asn400His) single nucleotide variant not provided [RCV000729304] Chr2:233768333 [GRCh38]
Chr2:234676979 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.1455G>A (p.Gln485=) single nucleotide variant not provided [RCV000731934] Chr2:233772412 [GRCh38]
Chr2:234681058 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.1544G>T (p.Arg515Leu) single nucleotide variant not provided [RCV000731935] Chr2:233772501 [GRCh38]
Chr2:234681147 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.1349G>A (p.Arg450His) single nucleotide variant none provided [RCV001285549]|not provided [RCV000734944] Chr2:233772306 [GRCh38]
Chr2:234680952 [GRCh37]
Chr2:2q37.1
uncertain significance
GRCh37/hg19 2q37.1(chr2:232215111-235593473)x1 copy number loss See cases [RCV000446723] Chr2:232215111..235593473 [GRCh37]
Chr2:2q37.1
likely pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 copy number loss See cases [RCV000446061] Chr2:234495262..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3 copy number gain See cases [RCV000448049] Chr2:219966808..237815985 [GRCh37]
Chr2:2q35-37.3
pathogenic
GRCh37/hg19 2q37.1(chr2:234651441-234652419)x1 copy number loss See cases [RCV000447946] Chr2:234651441..234652419 [GRCh37]
Chr2:2q37.1
benign|likely benign
NM_000463.3(UGT1A1):c.1084G>A (p.Gly362Ser) single nucleotide variant not provided [RCV000482866] Chr2:233767936 [GRCh38]
Chr2:234676582 [GRCh37]
Chr2:2q37.1
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 copy number loss See cases [RCV000512077] Chr2:234495262..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
NM_000463.3(UGT1A1):c.625C>T (p.Arg209Trp) single nucleotide variant Crigler-Najjar syndrome [RCV000503589]|Crigler-Najjar syndrome, type II [RCV001727734]|Inborn genetic diseases [RCV000623653] Chr2:233760912 [GRCh38]
Chr2:234669558 [GRCh37]
Chr2:2q37.1
pathogenic|likely pathogenic
NM_000463.3(UGT1A1):c.1006C>T (p.Arg336Trp) single nucleotide variant Crigler-Najjar syndrome [RCV000503685]|not provided [RCV000730191] Chr2:233767858 [GRCh38]
Chr2:234676504 [GRCh37]
Chr2:2q37.1
pathogenic
NM_000463.3(UGT1A1):c.222C>A (p.Tyr74Ter) single nucleotide variant Crigler-Najjar syndrome [RCV000501478]|not provided [RCV000597815] Chr2:233760509 [GRCh38]
Chr2:234669155 [GRCh37]
Chr2:2q37.1
pathogenic
NM_000463.3(UGT1A1):c.609_632del (p.His203_Lys211delinsGln) deletion Crigler-Najjar syndrome [RCV000503758] Chr2:233760895..233760918 [GRCh38]
Chr2:234669541..234669564 [GRCh37]
Chr2:2q37.1
likely pathogenic
NM_000463.3(UGT1A1):c.592T>C (p.Ser198Pro) single nucleotide variant not specified [RCV000501526] Chr2:233760879 [GRCh38]
Chr2:234669525 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.72G>A (p.Val24=) single nucleotide variant not specified [RCV000499372] Chr2:233760359 [GRCh38]
Chr2:234669005 [GRCh37]
Chr2:2q37.1
likely benign
NM_000463.3(UGT1A1):c.622_625dup (p.Arg209fs) duplication Crigler-Najjar syndrome [RCV000500693]|not provided [RCV000598144] Chr2:233760908..233760909 [GRCh38]
Chr2:234669555..234669558 [GRCh37]
Chr2:2q37.1
pathogenic
GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3 copy number gain See cases [RCV000511816] Chr2:222077224..239394441 [GRCh37]
Chr2:2q36.1-37.3
pathogenic
NM_205862.1(UGT1A6):c.61-6800_61-6799delAT deletion not specified [RCV000507576] Chr2:233760234..233760235 [GRCh38]
Chr2:234668880..234668881 [GRCh37]
Chr2:2q37.1
benign
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q37.1(chr2:234401465-235250353)x1 copy number loss See cases [RCV000510939] Chr2:234401465..235250353 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.1161C>T (p.Pro387=) single nucleotide variant not provided [RCV000594084] Chr2:233768296 [GRCh38]
Chr2:234676942 [GRCh37]
Chr2:2q37.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000463.3(UGT1A1):c.210C>G (p.Asp70Glu) single nucleotide variant not provided [RCV000595368] Chr2:233760497 [GRCh38]
Chr2:234669143 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.1558A>G (p.Lys520Glu) single nucleotide variant not provided [RCV000595503] Chr2:233772515 [GRCh38]
Chr2:234681161 [GRCh37]
Chr2:2q37.1
uncertain significance
Single allele duplication Crigler Najjar syndrome, type 1 [RCV000598144] Chr2:234669555..234669558 [GRCh37]
Chr2:2q37.1
pathogenic
NM_000463.3(UGT1A1):c.1085G>T (p.Gly362Val) single nucleotide variant not provided [RCV000595778] Chr2:233768220 [GRCh38]
Chr2:234676866 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.1555G>A (p.Gly519Arg) single nucleotide variant not provided [RCV000595876] Chr2:233772512 [GRCh38]
Chr2:234681158 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.1495G>A (p.Val499Met) single nucleotide variant not provided [RCV000513472] Chr2:233772452 [GRCh38]
Chr2:234681098 [GRCh37]
Chr2:2q37.1
uncertain significance
UGT1A1*36 microsatellite Irinotecan response [RCV000664406]|none provided [RCV000507576]|not provided [RCV001515198] Chr2:233760234..233760235 [GRCh38]
Chr2:234668880..234668881 [GRCh37]
Chr2:2q37.1
benign|drug response
UGT1A1*1 microsatellite Irinotecan response [RCV000664402] Chr2:233760235..233760248 [GRCh38]
Chr2:234668881..234668894 [GRCh37]
Chr2:2q37.1
drug response
UGT1A1*37 microsatellite Irinotecan response [RCV000664405]|not provided [RCV001508486] Chr2:233760233..233760234 [GRCh38]
Chr2:234668879..234668880 [GRCh37]
Chr2:2q37.1
pathogenic|conflicting interpretations of pathogenicity|drug response
GRCh37/hg19 2q37.1(chr2:234539809-234644190)x1 copy number loss not provided [RCV000682001] Chr2:234539809..234644190 [GRCh37]
Chr2:2q37.1
uncertain significance
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3
pathogenic
NM_000463.3(UGT1A1):c.1028C>T (p.Ser343Leu) single nucleotide variant not specified [RCV001001947] Chr2:233767880 [GRCh38]
Chr2:234676526 [GRCh37]
Chr2:2q37.1
uncertain significance
GRCh37/hg19 2q37.1(chr2:234639310-234662263)x1 copy number loss not provided [RCV000740961] Chr2:234639310..234662263 [GRCh37]
Chr2:2q37.1
benign
GRCh37/hg19 2q37.1(chr2:234648708-234658250)x1 copy number loss not provided [RCV000740962] Chr2:234648708..234658250 [GRCh37]
Chr2:2q37.1
benign
NM_019076.5(UGT1A8):c.988-82T>C single nucleotide variant not provided [RCV001692534] Chr2:233767767 [GRCh38]
Chr2:234676413 [GRCh37]
Chr2:2q37.1
benign
NM_019076.5(UGT1A8):c.1296-229A>C single nucleotide variant not provided [RCV001681735] Chr2:233772033 [GRCh38]
Chr2:234680679 [GRCh37]
Chr2:2q37.1
benign
NM_019093.4(UGT1A3):c.473C>T (p.Ala158Val) single nucleotide variant not provided [RCV000971729] Chr2:233729599 [GRCh38]
Chr2:234638245 [GRCh37]
Chr2:2q37.1
likely benign
NM_000463.3(UGT1A1):c.964A>G (p.Ile322Val) single nucleotide variant Crigler-Najjar syndrome [RCV001142513]|Gilbert syndrome [RCV001142514]|Lucey-Driscoll syndrome [RCV001142512]|not provided [RCV000898514] Chr2:233767133 [GRCh38]
Chr2:234675779 [GRCh37]
Chr2:2q37.1
benign|uncertain significance
NM_001072.4(UGT1A6):c.862-23412C>T single nucleotide variant not provided [RCV000903724] Chr2:233743622 [GRCh38]
Chr2:234652268 [GRCh37]
Chr2:2q37.1
benign
NM_000463.3(UGT1A1):c.672C>T (p.Asp224=) single nucleotide variant not provided [RCV000902971] Chr2:233760959 [GRCh38]
Chr2:234669605 [GRCh37]
Chr2:2q37.1
likely benign
NM_000463.3(UGT1A1):c.1084+7T>C single nucleotide variant not provided [RCV000943280] Chr2:233767943 [GRCh38]
Chr2:234676589 [GRCh37]
Chr2:2q37.1
likely benign
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3
pathogenic
NM_000463.3(UGT1A1):c.1494C>T (p.Val498=) single nucleotide variant not provided [RCV000919303] Chr2:233772451 [GRCh38]
Chr2:234681097 [GRCh37]
Chr2:2q37.1
likely benign
NM_000463.3(UGT1A1):c.414C>G (p.Ala138=) single nucleotide variant not provided [RCV000925296] Chr2:233760701 [GRCh38]
Chr2:234669347 [GRCh37]
Chr2:2q37.1
likely benign
NM_000463.3(UGT1A1):c.282T>C (p.Ser94=) single nucleotide variant not provided [RCV000909203] Chr2:233760569 [GRCh38]
Chr2:234669215 [GRCh37]
Chr2:2q37.1
likely benign
NM_000463.3(UGT1A1):c.933C>A (p.Val311=) single nucleotide variant not provided [RCV000879248] Chr2:233767102 [GRCh38]
Chr2:234675748 [GRCh37]
Chr2:2q37.1
likely benign
NM_000463.3(UGT1A1):c.733C>T (p.Gln245Ter) single nucleotide variant UGT1A1-Related Disorders [RCV000779314] Chr2:233761020 [GRCh38]
Chr2:234669666 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.*133G>A single nucleotide variant Crigler-Najjar syndrome [RCV001137852]|Gilbert syndrome [RCV001137853]|Lucey-Driscoll syndrome [RCV001137854] Chr2:233772692 [GRCh38]
Chr2:234681338 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.*188T>G single nucleotide variant Crigler-Najjar syndrome [RCV001137855]|Gilbert syndrome [RCV001137857]|Lucey-Driscoll syndrome [RCV001137856] Chr2:233772747 [GRCh38]
Chr2:234681393 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.*674G>A single nucleotide variant Crigler-Najjar syndrome [RCV001138391]|Gilbert syndrome [RCV001138392]|Lucey-Driscoll syndrome [RCV001138390] Chr2:233773233 [GRCh38]
Chr2:234681879 [GRCh37]
Chr2:2q37.1
uncertain significance
GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3 copy number gain not provided [RCV001007519] Chr2:230814690..242783384 [GRCh37]
Chr2:2q36.3-37.3
pathogenic
NM_000463.3(UGT1A1):c.*84T>C single nucleotide variant Crigler-Najjar syndrome [RCV001142611]|Gilbert syndrome [RCV001142613]|Lucey-Driscoll syndrome [RCV001142612] Chr2:233772643 [GRCh38]
Chr2:234681289 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.1220del (p.Lys407fs) deletion Gilbert syndrome [RCV001762728]|not provided [RCV001573511] Chr2:233768354 [GRCh38]
Chr2:234677000 [GRCh37]
Chr2:2q37.1
pathogenic
NM_000463.3(UGT1A1):c.669C>T (p.Cys223=) single nucleotide variant not provided [RCV000907601] Chr2:233760956 [GRCh38]
Chr2:234669602 [GRCh37]
Chr2:2q37.1
likely benign
NM_000463.3(UGT1A1):c.584G>A (p.Arg195Lys) single nucleotide variant Crigler-Najjar syndrome [RCV001140639]|Gilbert syndrome [RCV001140641]|Lucey-Driscoll syndrome [RCV001140640] Chr2:233760871 [GRCh38]
Chr2:234669517 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.1411G>A (p.Ala471Thr) single nucleotide variant Crigler-Najjar syndrome [RCV001140743]|Gilbert syndrome [RCV001140741]|Lucey-Driscoll syndrome [RCV001140742] Chr2:233772368 [GRCh38]
Chr2:234681014 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_021027.3(UGT1A9):c.1443C>T (p.Tyr481=) single nucleotide variant not provided [RCV000912430] Chr2:233772409 [GRCh38]
Chr2:234681055 [GRCh37]
Chr2:2q37.1
likely benign
NM_000463.3(UGT1A1):c.931del (p.Val311fs) deletion Crigler-Najjar syndrome type 1 [RCV001559125] Chr2:233767099 [GRCh38]
Chr2:234675745 [GRCh37]
Chr2:2q37.1
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234090049-239494702)x1 copy number loss not provided [RCV001007520] Chr2:234090049..239494702 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
NM_019076.5(UGT1A8):c.856-6852T>C single nucleotide variant not provided [RCV001675212] Chr2:233760182 [GRCh38]
Chr2:234668828 [GRCh37]
Chr2:2q37.1
benign
NM_019076.5(UGT1A8):c.988-100_988-99dup duplication not provided [RCV001655533] Chr2:233767747..233767748 [GRCh38]
Chr2:234676393..234676394 [GRCh37]
Chr2:2q37.1
benign
NM_019076.5(UGT1A8):c.1076-79G>A single nucleotide variant not provided [RCV001718427] Chr2:233768141 [GRCh38]
Chr2:234676787 [GRCh37]
Chr2:2q37.1
benign
NM_000463.3(UGT1A1):c.1548A>T (p.Lys516Asn) single nucleotide variant Crigler-Najjar syndrome [RCV001142608]|Gilbert syndrome [RCV001142610]|Lucey-Driscoll syndrome [RCV001142609] Chr2:233772505 [GRCh38]
Chr2:234681151 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.*301G>A single nucleotide variant Crigler-Najjar syndrome [RCV001140869]|Gilbert syndrome [RCV001140870]|Lucey-Driscoll syndrome [RCV001140871] Chr2:233772860 [GRCh38]
Chr2:234681506 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.1410C>T (p.Gly470=) single nucleotide variant Crigler-Najjar syndrome [RCV001139989]|Gilbert syndrome [RCV001140740]|Lucey-Driscoll syndrome [RCV001139990] Chr2:233772367 [GRCh38]
Chr2:234681013 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.1518C>A (p.Thr506=) single nucleotide variant Crigler-Najjar syndrome [RCV001142606]|Gilbert syndrome [RCV001140747]|Lucey-Driscoll syndrome [RCV001142607] Chr2:233772475 [GRCh38]
Chr2:234681121 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.239_240insGTAC (p.Val81fs) insertion not specified [RCV001001244] Chr2:233760525..233760526 [GRCh38]
Chr2:234669171..234669172 [GRCh37]
Chr2:2q37.1
pathogenic
NM_019076.5(UGT1A8):c.988-37T>C single nucleotide variant not provided [RCV001671504] Chr2:233767812 [GRCh38]
Chr2:234676458 [GRCh37]
Chr2:2q37.1
benign
NM_000463.3(UGT1A1):c.361G>C (p.Ala121Pro) single nucleotide variant Crigler-Najjar syndrome [RCV001137636]|Gilbert syndrome [RCV001137638]|Lucey-Driscoll syndrome [RCV001137637] Chr2:233760648 [GRCh38]
Chr2:234669294 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.*419T>C single nucleotide variant Crigler-Najjar syndrome [RCV001142717]|Gilbert syndrome [RCV001142719]|Lucey-Driscoll syndrome [RCV001142718] Chr2:233772978 [GRCh38]
Chr2:234681624 [GRCh37]
Chr2:2q37.1
benign|uncertain significance
NM_000463.3(UGT1A1):c.*461G>T single nucleotide variant Crigler-Najjar syndrome [RCV001137974]|Gilbert syndrome [RCV001137973]|Lucey-Driscoll syndrome [RCV001137975] Chr2:233773020 [GRCh38]
Chr2:234681666 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.288G>A (p.Gly96=) single nucleotide variant Crigler-Najjar syndrome [RCV001142380]|Gilbert syndrome [RCV001142381]|Lucey-Driscoll syndrome [RCV001140534] Chr2:233760575 [GRCh38]
Chr2:234669221 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.25C>T (p.Arg9Cys) single nucleotide variant Crigler-Najjar syndrome [RCV001139757]|Gilbert syndrome [RCV001137542]|Lucey-Driscoll syndrome [RCV001139756] Chr2:233760312 [GRCh38]
Chr2:234668958 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.1180T>C (p.Phe394Leu) single nucleotide variant Crigler-Najjar syndrome [RCV001137750]|Gilbert syndrome [RCV001139987]|Lucey-Driscoll syndrome [RCV001139986] Chr2:233768315 [GRCh38]
Chr2:234676961 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.*269C>T single nucleotide variant Crigler-Najjar syndrome [RCV001140867]|Gilbert syndrome [RCV001140868]|Lucey-Driscoll syndrome [RCV001140106] Chr2:233772828 [GRCh38]
Chr2:234681474 [GRCh37]
Chr2:2q37.1
uncertain significance
GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1 copy number loss Chromosome 2q37 deletion syndrome [RCV001263221] Chr2:233110452..243028452 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
NM_000463.3(UGT1A1):c.175G>T (p.Val59Phe) single nucleotide variant not provided [RCV001531353] Chr2:233760462 [GRCh38]
Chr2:234669108 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.1445C>T (p.Thr482Ile) single nucleotide variant none provided [RCV001285915] Chr2:233772402 [GRCh38]
Chr2:234681048 [GRCh37]
Chr2:2q37.1
uncertain significance
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic
NM_000463.3(UGT1A1):c.996+18C>T single nucleotide variant none provided [RCV001284892]|not provided [RCV001523096] Chr2:233767183 [GRCh38]
Chr2:234675829 [GRCh37]
Chr2:2q37.1
benign
NM_001072.4(UGT1A6):c.861+35946G>C single nucleotide variant none provided [RCV001285573] Chr2:233729811 [GRCh38]
Chr2:234638457 [GRCh37]
Chr2:2q37.1
uncertain significance
NM_000463.3(UGT1A1):c.389dup (p.Leu130fs) duplication Crigler-Najjar syndrome type 1 [RCV001543696] Chr2:233760674..233760675 [GRCh38]
Chr2:234669320..234669321 [GRCh37]
Chr2:2q37.1
pathogenic
NM_000463.3(UGT1A1):c.679dup (p.Tyr227fs) duplication not provided [RCV001382093] Chr2:233760963..233760964 [GRCh38]
Chr2:234669609..234669610 [GRCh37]
Chr2:2q37.1
pathogenic
NM_000463.3(UGT1A1):c.380_381insGG (p.Cys127fs) insertion Crigler-Najjar syndrome type 1 [RCV001509551] Chr2:233760666..233760667 [GRCh38]
Chr2:234669312..234669313 [GRCh37]
Chr2:2q37.1
pathogenic
NM_019076.5(UGT1A8):c.988-83C>T single nucleotide variant not provided [RCV001694717] Chr2:233767766 [GRCh38]
Chr2:234676412 [GRCh37]
Chr2:2q37.1
benign
NM_019076.5(UGT1A8):c.856-113C>T single nucleotide variant not provided [RCV001715892] Chr2:233766921 [GRCh38]
Chr2:234675567 [GRCh37]
Chr2:2q37.1
benign
NM_019076.5(UGT1A8):c.987+307A>G single nucleotide variant not provided [RCV001715863] Chr2:233767472 [GRCh38]
Chr2:234676118 [GRCh37]
Chr2:2q37.1
benign
NM_019076.5(UGT1A8):c.856-5794C>T single nucleotide variant not provided [RCV001694434] Chr2:233761240 [GRCh38]
Chr2:234669886 [GRCh37]
Chr2:2q37.1
benign
NM_000463.3(UGT1A1):c.1305-15T>C single nucleotide variant not provided [RCV001508488] Chr2:233772247 [GRCh38]
Chr2:234680893 [GRCh37]
Chr2:2q37.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12535 AgrOrtholog
COSMIC UGT1A3 COSMIC
Ensembl Genes ENSG00000243135 Ensembl
  ENSG00000288702 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000418532 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000482026 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000243135 GTEx
  ENSG00000288702 GTEx
HGNC ID HGNC:12535 ENTREZGENE
Human Proteome Map UGT1A3 Human Proteome Map
InterPro UDP_glucos_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UDP_glycos_trans_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54659 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 54659 ENTREZGENE
OMIM 606428 OMIM
Pfam UDPGT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37178 PharmGKB, RGD
PROSITE UDPGT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A7E1U4_HUMAN UniProtKB/TrEMBL
  A7E1U5_HUMAN UniProtKB/TrEMBL
  A7E1U6_HUMAN UniProtKB/TrEMBL
  A7E1U7_HUMAN UniProtKB/TrEMBL
  A7E1U8_HUMAN UniProtKB/TrEMBL
  A7E1U9_HUMAN UniProtKB/TrEMBL
  A7ISW3_HUMAN UniProtKB/TrEMBL
  A9UKC8_HUMAN UniProtKB/TrEMBL
  A9UKC9_HUMAN UniProtKB/TrEMBL
  A9UKD1_HUMAN UniProtKB/TrEMBL
  B1MV79_HUMAN UniProtKB/TrEMBL
  P35503 ENTREZGENE
  Q5DT01 ENTREZGENE, UniProtKB/TrEMBL
  Q75XT3_HUMAN UniProtKB/TrEMBL
  Q75XT5_HUMAN UniProtKB/TrEMBL
  Q8WX89_HUMAN UniProtKB/TrEMBL
  Q8WX90_HUMAN UniProtKB/TrEMBL
  Q8WX91_HUMAN UniProtKB/TrEMBL
  UD13_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B8K287 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-07 UGT1A3  UDP glucuronosyltransferase family 1 member A3  UGT1A3  UDP glucuronosyltransferase 1 family, polypeptide A3  Symbol and/or name change 5135510 APPROVED