UPB1 (beta-ureidopropionase 1) - Rat Genome Database

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Gene: UPB1 (beta-ureidopropionase 1) Homo sapiens
Analyze
Symbol: UPB1
Name: beta-ureidopropionase 1
RGD ID: 734439
HGNC Page HGNC
Description: Enables beta-ureidopropionase activity and protein homodimerization activity. Involved in beta-alanine biosynthetic process via 3-ureidopropionate; protein homotetramerization; and pyrimidine nucleoside catabolic process. Located in extracellular exosome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: beta-alanine synthase; beta-ureidopropionase; BUP-1; BUP1; n-carbamoyl-beta-alanine amidohydrolase; ureidopropionase, beta
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2224,494,107 - 24,528,390 (+)EnsemblGRCh38hg38GRCh38
GRCh382224,495,060 - 24,528,681 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372224,891,300 - 24,924,358 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362223,221,251 - 23,252,553 (+)NCBINCBI36hg18NCBI36
Build 342223,215,804 - 23,247,106NCBI
Celera228,690,987 - 8,722,274 (+)NCBI
Cytogenetic Map22q11.23NCBI
HuRef227,840,918 - 7,872,203 (+)NCBIHuRef
CHM1_12224,849,971 - 24,881,302 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrotoluene  (ISO)
2,4-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
ammonium chloride  (ISO)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bisphenol A  (ISO)
bromobenzene  (ISO)
buta-1,3-diene  (ISO)
C60 fullerene  (ISO)
carbon nanotube  (ISO)
chlordecone  (ISO)
chromium(6+)  (ISO)
cyclosporin A  (EXP)
dextran sulfate  (ISO)
dioxygen  (EXP)
flavonoids  (ISO)
furan  (ISO)
gentamycin  (ISO)
gliotoxin  (ISO)
glycidol  (ISO)
isotretinoin  (EXP)
methapyrilene  (ISO)
methotrexate  (EXP)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nickel atom  (EXP)
nimesulide  (ISO)
nitrofen  (ISO)
O-methyleugenol  (EXP)
obeticholic acid  (EXP)
ochratoxin A  (ISO)
paracetamol  (EXP,ISO)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
progesterone  (ISO)
Propiverine  (ISO)
rotenone  (ISO)
sodium arsenite  (ISO)
tauroursodeoxycholic acid  (ISO)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene 2,4-diisocyanate  (ISO)
toxaphene  (EXP)
triclosan  (EXP)
triptonide  (ISO)
troglitazone  (EXP)
tunicamycin  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
vincristine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (ISO,TAS)
extracellular exosome  (HDA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:3931905   PMID:10542323   PMID:11508704   PMID:12477932   PMID:14702039   PMID:15385443   PMID:15461802   PMID:17065070   PMID:18075467   PMID:18216719   PMID:19056867   PMID:19913121  
PMID:20628086   PMID:21873635   PMID:22525402   PMID:23238479   PMID:23376485   PMID:24328561   PMID:24526388   PMID:24927181   PMID:25236466   PMID:26344197   PMID:29976570   PMID:30512155  


Genomics

Comparative Map Data
UPB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2224,494,107 - 24,528,390 (+)EnsemblGRCh38hg38GRCh38
GRCh382224,495,060 - 24,528,681 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372224,891,300 - 24,924,358 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362223,221,251 - 23,252,553 (+)NCBINCBI36hg18NCBI36
Build 342223,215,804 - 23,247,106NCBI
Celera228,690,987 - 8,722,274 (+)NCBI
Cytogenetic Map22q11.23NCBI
HuRef227,840,918 - 7,872,203 (+)NCBIHuRef
CHM1_12224,849,971 - 24,881,302 (+)NCBICHM1_1
Upb1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391075,242,745 - 75,277,513 (+)NCBIGRCm39mm39
GRCm39 Ensembl1075,236,949 - 75,277,513 (+)Ensembl
GRCm381075,406,911 - 75,441,679 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1075,401,115 - 75,441,679 (+)EnsemblGRCm38mm10GRCm38
MGSCv371074,869,779 - 74,902,942 (+)NCBIGRCm37mm9NCBIm37
MGSCv361074,846,181 - 74,883,913 (+)NCBImm8
Celera1076,453,987 - 76,488,021 (+)NCBICelera
Cytogenetic Map10C1NCBI
Upb1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22013,217,252 - 13,243,590 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl2013,217,258 - 13,243,590 (-)Ensembl
Rnor_6.02014,167,383 - 14,193,724 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2014,167,586 - 14,193,690 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02016,352,599 - 16,378,743 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42013,715,995 - 13,743,261 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12013,716,221 - 13,743,488 (-)NCBI
Celera2014,703,097 - 14,729,538 (-)NCBICelera
Cytogenetic Map20p12NCBI
Upb1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554557,961,264 - 7,995,946 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554557,961,296 - 7,992,235 (+)NCBIChiLan1.0ChiLan1.0
UPB1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12222,138,989 - 22,197,360 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2222,166,370 - 22,197,360 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0225,300,686 - 5,332,735 (+)NCBIMhudiblu_PPA_v0panPan3
UPB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12628,194,968 - 28,225,977 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2628,195,081 - 28,225,567 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2627,269,282 - 27,301,115 (+)NCBI
ROS_Cfam_1.02629,598,247 - 29,630,273 (+)NCBI
UMICH_Zoey_3.12627,681,607 - 27,713,443 (+)NCBI
UNSW_CanFamBas_1.02627,298,626 - 27,330,446 (+)NCBI
UU_Cfam_GSD_1.02628,288,066 - 28,320,106 (+)NCBI
Upb1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118142,039,199 - 142,085,682 (-)NCBI
SpeTri2.0NW_004936619668,380 - 713,720 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UPB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1449,533,226 - 49,565,100 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11449,533,208 - 49,561,518 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21452,975,014 - 53,003,329 (+)NCBISscrofa10.2Sscrofa10.2susScr3
UPB1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1197,605,999 - 7,639,339 (-)NCBI
ChlSab1.1 Ensembl197,605,537 - 7,639,017 (-)Ensembl
Vero_WHO_p1.0NW_0236660854,807,773 - 4,841,973 (-)NCBI
Upb1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247479,911,323 - 9,940,770 (+)NCBI

Position Markers
D22S156  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372224,892,309 - 24,892,412UniSTSGRCh37
Celera228,692,045 - 8,692,148UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map22q11.2UniSTS
HuRef227,841,976 - 7,842,079UniSTS
Marshfield Genetic Map2219.32UniSTS
Marshfield Genetic Map2219.32RGD
deCODE Assembly Map2218.96UniSTS
STS-T67940  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372224,932,371 - 24,932,519UniSTSGRCh37
Build 362223,262,371 - 23,262,519RGDNCBI36
Celera228,732,093 - 8,732,241RGD
Cytogenetic Map22q11.2UniSTS
HuRef227,882,059 - 7,882,207UniSTS
GeneMap99-GB4 RH Map2280.46UniSTS
NCBI RH Map2266.5UniSTS
SGC33315  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372224,932,446 - 24,932,574UniSTSGRCh37
Build 362223,262,446 - 23,262,574RGDNCBI36
Celera228,732,168 - 8,732,296RGD
Cytogenetic Map22q11.2UniSTS
HuRef227,882,134 - 7,882,262UniSTS
TNG Radiation Hybrid Map1050480.0UniSTS
GeneMap99-GB4 RH Map2251.91UniSTS
Whitehead-RH Map2246.8UniSTS
NCBI RH Map2267.1UniSTS
WIAF-2537  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372224,922,396 - 24,922,516UniSTSGRCh37
Build 362223,252,396 - 23,252,516RGDNCBI36
Celera228,722,117 - 8,722,237RGD
Cytogenetic Map22q11.2UniSTS
HuRef227,872,046 - 7,872,166UniSTS
HSC1IC042  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372224,922,328 - 24,922,527UniSTSGRCh37
Build 362223,252,328 - 23,252,527RGDNCBI36
Celera228,722,049 - 8,722,248RGD
Cytogenetic Map22q11.2UniSTS
HuRef227,871,978 - 7,872,177UniSTS
GeneMap99-GB4 RH Map2251.91UniSTS
Whitehead-RH Map2246.8UniSTS
NCBI RH Map2267.1UniSTS
D10S275  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map6q24UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map20pter-q11.23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11p14.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map6q12-q13UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
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Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
D1S1425  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map2p23-p22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic Map2p11.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map3q11.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map15q11-q12UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map4q31.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map15q24-q25UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6q16UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic MapXq21.1UniSTS
D1S1431  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map22q11.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2397
Count of miRNA genes:976
Interacting mature miRNAs:1143
Transcripts:ENST00000326010, ENST00000382760, ENST00000413389, ENST00000415388, ENST00000486043, ENST00000498140
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 entire extraembryonic component
High
Medium 1 2 382 382 42 382 4 123 4 3
Low 348 1562 316 57 1376 56 787 498 839 156 661 640 3 147 529
Below cutoff 2048 1419 1018 182 519 26 3534 1691 2858 113 733 932 166 1056 2254 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_937867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB013885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF163312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH008374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC131703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC139843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR627429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000326010   ⟹   ENSP00000324343
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2224,495,332 - 24,528,390 (+)Ensembl
RefSeq Acc Id: ENST00000382760   ⟹   ENSP00000372208
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2224,495,242 - 24,503,738 (+)Ensembl
RefSeq Acc Id: ENST00000415388   ⟹   ENSP00000400684
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2224,494,107 - 24,526,668 (+)Ensembl
RefSeq Acc Id: ENST00000486043
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2224,520,174 - 24,523,700 (+)Ensembl
RefSeq Acc Id: ENST00000498140
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2224,519,801 - 24,528,390 (+)Ensembl
RefSeq Acc Id: NM_016327   ⟹   NP_057411
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,495,332 - 24,528,390 (+)NCBI
GRCh372224,863,344 - 24,922,553 (+)NCBI
Build 362223,221,251 - 23,252,553 (+)NCBI Archive
Celera228,690,987 - 8,722,274 (+)RGD
HuRef227,840,918 - 7,872,203 (+)RGD
CHM1_12224,849,971 - 24,881,302 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530222   ⟹   XP_011528524
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,495,060 - 24,526,585 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530223   ⟹   XP_011528525
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,495,060 - 24,522,028 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530224   ⟹   XP_011528526
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,495,060 - 24,526,585 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530225   ⟹   XP_011528527
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,495,359 - 24,526,585 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028825   ⟹   XP_016884314
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,495,060 - 24,526,585 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028826   ⟹   XP_016884315
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,495,060 - 24,526,585 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028827   ⟹   XP_016884316
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,495,060 - 24,525,768 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028828   ⟹   XP_016884317
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,495,060 - 24,526,585 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001755249
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,495,060 - 24,523,641 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001755250
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,495,060 - 24,526,585 (+)NCBI
Sequence:
RefSeq Acc Id: XR_937867
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,495,060 - 24,528,681 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_057411   ⟸   NM_016327
- UniProtKB: Q9UBR1 (UniProtKB/Swiss-Prot),   A0A024R1H3 (UniProtKB/TrEMBL),   B3KNC1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011528524   ⟸   XM_011530222
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011528526   ⟸   XM_011530224
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011528527   ⟸   XM_011530225
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011528525   ⟸   XM_011530223
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016884315   ⟸   XM_017028826
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016884314   ⟸   XM_017028825
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016884317   ⟸   XM_017028828
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016884316   ⟸   XM_017028827
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: ENSP00000400684   ⟸   ENST00000415388
RefSeq Acc Id: ENSP00000324343   ⟸   ENST00000326010
RefSeq Acc Id: ENSP00000372208   ⟸   ENST00000382760
Protein Domains
CN hydrolase

Promoters
RGD ID:6812237
Promoter ID:HG_ACW:51506
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:UPB1.IAPR07,   UPB1.KAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 362223,240,536 - 23,241,036 (+)MPROMDB
RGD ID:13603500
Promoter ID:EPDNEW_H27934
Type:initiation region
Name:UPB1_2
Description:beta-ureidopropionase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27935  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,495,087 - 24,495,147EPDNEW
RGD ID:13603502
Promoter ID:EPDNEW_H27935
Type:initiation region
Name:UPB1_1
Description:beta-ureidopropionase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27934  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382224,495,332 - 24,495,392EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_016327.3(UPB1):c.105-2A>G single nucleotide variant Deficiency of beta-ureidopropionase [RCV000004363]|not provided [RCV001384579] Chr22:24500105 [GRCh38]
Chr22:24896073 [GRCh37]
Chr22:22q11.23
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_016327.3(UPB1):c.917-2A>G single nucleotide variant Deficiency of beta-ureidopropionase [RCV000004364] Chr22:24523617 [GRCh38]
Chr22:24919585 [GRCh37]
Chr22:22q11.23
pathogenic
NM_016327.3(UPB1):c.671del (p.Gln224fs) deletion not provided [RCV000722641] Chr22:24515250 [GRCh38]
Chr22:24911218 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.386C>G (p.Thr129Arg) single nucleotide variant not provided [RCV000722309] Chr22:24510770 [GRCh38]
Chr22:24906738 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.364+1G>A single nucleotide variant not provided [RCV000722946] Chr22:24502214 [GRCh38]
Chr22:24898182 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.814G>A (p.Ala272Thr) single nucleotide variant not provided [RCV000519139] Chr22:24520409 [GRCh38]
Chr22:24916377 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.254C>A (p.Ala85Glu) single nucleotide variant Deficiency of beta-ureidopropionase [RCV000004365]|not provided [RCV000086541]|not specified [RCV000455167] Chr22:24500256 [GRCh38]
Chr22:24896224 [GRCh37]
Chr22:23226224 [NCBI36]
Chr22:22q11.23
pathogenic|benign|likely benign|uncertain significance|not provided
NM_016327.3(UPB1):c.209G>C (p.Arg70Pro) single nucleotide variant Deficiency of beta-ureidopropionase [RCV000004366] Chr22:24500211 [GRCh38]
Chr22:24896179 [GRCh37]
Chr22:22q11.23
pathogenic|uncertain significance
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 copy number gain See cases [RCV000050768] Chr22:18178957..31821193 [GRCh38]
Chr22:18661724..32217179 [GRCh37]
Chr22:17041724..30547179 [NCBI36]
Chr22:22q11.21-12.3
pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3 copy number gain See cases [RCV000050739] Chr22:22669543..24563859 [GRCh38]
Chr22:23012013..24959827 [GRCh37]
Chr22:21342013..23289827 [NCBI36]
Chr22:22q11.22-11.23
conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.23(chr22:23338443-24610403)x3 copy number gain See cases [RCV000053174] Chr22:23338443..24610403 [GRCh38]
Chr22:23680630..25006370 [GRCh37]
Chr22:22010630..23336370 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23338443-24577664)x3 copy number gain See cases [RCV000053175] Chr22:23338443..24577664 [GRCh38]
Chr22:23680630..24973632 [GRCh37]
Chr22:22010630..23303632 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23354221-24541945)x3 copy number gain See cases [RCV000053176] Chr22:23354221..24541945 [GRCh38]
Chr22:23696408..24937913 [GRCh37]
Chr22:22026408..23267913 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23369950-24669609)x3 copy number gain See cases [RCV000053177] Chr22:23369950..24669609 [GRCh38]
Chr22:23712137..25065576 [GRCh37]
Chr22:22042137..23395576 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23377784-24564000)x3 copy number gain See cases [RCV000053178] Chr22:23377784..24564000 [GRCh38]
Chr22:23719971..24959968 [GRCh37]
Chr22:22049971..23289968 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3 copy number gain See cases [RCV000053179] Chr22:23377984..24563859 [GRCh38]
Chr22:23720171..24959827 [GRCh37]
Chr22:22050171..23289827 [NCBI36]
Chr22:22q11.23
conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.23(chr22:23377984-24669609)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053181]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053181]|See cases [RCV000053181] Chr22:23377984..24669609 [GRCh38]
Chr22:23720171..25065576 [GRCh37]
Chr22:22050171..23395576 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23414627-24563859)x3 copy number gain See cases [RCV000053182] Chr22:23414627..24563859 [GRCh38]
Chr22:23756814..24959827 [GRCh37]
Chr22:22086814..23289827 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22686122-24577664)x3 copy number gain See cases [RCV000053161] Chr22:22686122..24577664 [GRCh38]
Chr22:23028586..24973632 [GRCh37]
Chr22:21358586..23303632 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22703701-24669609)x3 copy number gain See cases [RCV000053163] Chr22:22703701..24669609 [GRCh38]
Chr22:23046186..25065576 [GRCh37]
Chr22:21376186..23395576 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23285152-24723136)x3 copy number gain See cases [RCV000053164] Chr22:23285152..24723136 [GRCh38]
Chr22:23627339..25119103 [GRCh37]
Chr22:21957339..23449103 [NCBI36]
Chr22:22q11.23
uncertain significance
NM_016327.2(UPB1):c.-80C>G single nucleotide variant Deficiency of beta-ureidopropionase [RCV000323244]|not provided [RCV000086537] Chr22:24495324 [GRCh38]
Chr22:24891292 [GRCh37]
Chr22:23221292 [NCBI36]
Chr22:22q11.23
benign|not provided
NM_016327.3(UPB1):c.-17A>T single nucleotide variant Deficiency of beta-ureidopropionase [RCV000402048]|not provided [RCV000086538] Chr22:24495387 [GRCh38]
Chr22:24891355 [GRCh37]
Chr22:23221355 [NCBI36]
Chr22:22q11.23
benign|not provided
NM_016327.3(UPB1):c.105-61A>G single nucleotide variant not provided [RCV000086539] Chr22:24500046 [GRCh38]
Chr22:24896014 [GRCh37]
Chr22:23226014 [NCBI36]
Chr22:22q11.23
not provided
NM_016327.3(UPB1):c.143C>G (p.Ser48Cys) single nucleotide variant not provided [RCV000086540] Chr22:24500145 [GRCh38]
Chr22:24896113 [GRCh37]
Chr22:23226113 [NCBI36]
Chr22:22q11.23
not provided
NM_016327.3(UPB1):c.365-67G>A single nucleotide variant not provided [RCV000086542] Chr22:24510682 [GRCh38]
Chr22:24906650 [GRCh37]
Chr22:23236650 [NCBI36]
Chr22:22q11.23
not provided
NM_016327.3(UPB1):c.702C>T (p.Tyr234=) single nucleotide variant Deficiency of beta-ureidopropionase [RCV001144172]|not provided [RCV000086543] Chr22:24515281 [GRCh38]
Chr22:24911249 [GRCh37]
Chr22:23241249 [NCBI36]
Chr22:22q11.23
benign|not provided
NM_016327.3(UPB1):c.846C>T (p.Phe282=) single nucleotide variant Deficiency of beta-ureidopropionase [RCV000303080]|not provided [RCV000086544] Chr22:24520441 [GRCh38]
Chr22:24916409 [GRCh37]
Chr22:23246409 [NCBI36]
Chr22:22q11.23
benign|uncertain significance|not provided
NM_016327.3(UPB1):c.873+9C>T single nucleotide variant Deficiency of beta-ureidopropionase [RCV000360133]|not provided [RCV000086545] Chr22:24520477 [GRCh38]
Chr22:24916445 [GRCh37]
Chr22:23246445 [NCBI36]
Chr22:22q11.23
benign|uncertain significance|not provided
NM_016327.3(UPB1):c.874-64A>G single nucleotide variant not provided [RCV000086546] Chr22:24521922 [GRCh38]
Chr22:24917890 [GRCh37]
Chr22:23247890 [NCBI36]
Chr22:22q11.23
not provided
NM_016327.3(UPB1):c.957G>A (p.Val319=) single nucleotide variant Deficiency of beta-ureidopropionase [RCV001148855]|not provided [RCV000086547] Chr22:24523659 [GRCh38]
Chr22:24919627 [GRCh37]
Chr22:23249627 [NCBI36]
Chr22:22q11.23
benign|likely benign|not provided
NM_016327.3(UPB1):c.976C>A (p.Arg326=) single nucleotide variant Deficiency of beta-ureidopropionase [RCV000382705]|not provided [RCV000086548] Chr22:24523678 [GRCh38]
Chr22:24919646 [GRCh37]
Chr22:23249646 [NCBI36]
Chr22:22q11.23
benign|uncertain significance|not provided
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
Single allele duplication Epilepsy [RCV001293375] Chr22:23699269..24992266 [GRCh37]
Chr22:22q11.23
pathogenic
NM_016327.3(UPB1):c.917-1G>A single nucleotide variant Deficiency of beta-ureidopropionase [RCV000763075]|not provided [RCV000514100] Chr22:24523618 [GRCh38]
Chr22:24919586 [GRCh37]
Chr22:22q11.23
pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22669599-24670517)x3 copy number gain See cases [RCV000136060] Chr22:22669599..24670517 [GRCh38]
Chr22:23012069..25066484 [GRCh37]
Chr22:21342069..23396484 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23311976-24644628)x3 copy number gain See cases [RCV000137701] Chr22:23311976..24644628 [GRCh38]
Chr22:23654163..25040595 [GRCh37]
Chr22:21984163..23370595 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22660239-24644628)x3 copy number gain See cases [RCV000137410] Chr22:22660239..24644628 [GRCh38]
Chr22:23002709..25040595 [GRCh37]
Chr22:21332709..23370595 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23804407-24669609)x3 copy number gain See cases [RCV000137178] Chr22:23804407..24669609 [GRCh38]
Chr22:24146594..25065576 [GRCh37]
Chr22:22476594..23395576 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3 copy number gain See cases [RCV000138172] Chr22:23279231..36247369 [GRCh38]
Chr22:23621418..36643415 [GRCh37]
Chr22:21951418..34973361 [NCBI36]
Chr22:22q11.23-12.3
pathogenic
GRCh38/hg38 22q11.23(chr22:23311976-24600238)x3 copy number gain See cases [RCV000137995] Chr22:23311976..24600238 [GRCh38]
Chr22:23654163..24996205 [GRCh37]
Chr22:21984163..23326205 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 copy number gain See cases [RCV000137926] Chr22:20907226..37187347 [GRCh38]
Chr22:21261514..37583387 [GRCh37]
Chr22:19591514..35913333 [NCBI36]
Chr22:22q11.21-12.3
pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22660239-24600238)x3 copy number gain See cases [RCV000137795] Chr22:22660239..24600238 [GRCh38]
Chr22:23002709..24996205 [GRCh37]
Chr22:21332709..23326205 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22660239-24596054)x3 copy number gain See cases [RCV000138249] Chr22:22660239..24596054 [GRCh38]
Chr22:23002709..24992021 [GRCh37]
Chr22:21332709..23322021 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23311976-24669609)x3 copy number gain See cases [RCV000139440] Chr22:23311976..24669609 [GRCh38]
Chr22:23654163..25065576 [GRCh37]
Chr22:21984163..23395576 [NCBI36]
Chr22:22q11.23
likely benign|uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22655333-24663664)x3 copy number gain See cases [RCV000141936] Chr22:22655333..24663664 [GRCh38]
Chr22:22997803..25059631 [GRCh37]
Chr22:21327803..23389631 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23308686-24647020)x3 copy number gain See cases [RCV000141802] Chr22:23308686..24647020 [GRCh38]
Chr22:23650873..25042987 [GRCh37]
Chr22:21980873..23372987 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22655333-24630890)x3 copy number gain See cases [RCV000142221] Chr22:22655333..24630890 [GRCh38]
Chr22:22997803..25026857 [GRCh37]
Chr22:21327803..23356857 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22655333-24647020)x3 copy number gain See cases [RCV000143750] Chr22:22655333..24647020 [GRCh38]
Chr22:22997803..25042987 [GRCh37]
Chr22:21327803..23372987 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3 copy number gain See cases [RCV000148079] Chr22:22669543..24563859 [GRCh38]
Chr22:23012013..24959827 [GRCh37]
Chr22:21342013..23289827 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23348201-24647020)x3 copy number gain See cases [RCV000143627] Chr22:23348201..24647020 [GRCh38]
Chr22:23690388..25042987 [GRCh37]
Chr22:22020388..23372987 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22920775-24606692)x3 copy number gain See cases [RCV000143543] Chr22:22920775..24606692 [GRCh38]
Chr22:23262947..25002659 [GRCh37]
Chr22:21592947..23332659 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23310399-24643051)x3 copy number gain See cases [RCV000143562] Chr22:23310399..24643051 [GRCh38]
Chr22:23652586..25039018 [GRCh37]
Chr22:21982586..23369018 [NCBI36]
Chr22:22q11.23
likely benign|uncertain significance
GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3 copy number gain See cases [RCV000148169] Chr22:23377984..24563859 [GRCh38]
Chr22:23720171..24959827 [GRCh37]
Chr22:22050171..23289827 [NCBI36]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.91G>A (p.Gly31Ser) single nucleotide variant Deficiency of beta-ureidopropionase [RCV000765616]|not provided [RCV000513730] Chr22:24495494 [GRCh38]
Chr22:24891462 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.23(chr22:23891773-24991691)x3 copy number gain See cases [RCV000203419] Chr22:23891773..24991691 [GRCh37]
Chr22:22q11.23
likely pathogenic
NM_016327.3(UPB1):c.873+1G>A single nucleotide variant Deficiency of beta-ureidopropionase [RCV001334907]|not provided [RCV000303418] Chr22:24520469 [GRCh38]
Chr22:24916437 [GRCh37]
Chr22:22q11.23
pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:23258229-25046803)x3 copy number gain See cases [RCV000239808] Chr22:23258229..25046803 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
NM_016327.3(UPB1):c.509A>G (p.Asp170Gly) single nucleotide variant not provided [RCV000722187] Chr22:24513373 [GRCh38]
Chr22:24909341 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1 copy number loss Premature ovarian failure [RCV000225330] Chr22:18738296..25914592 [GRCh37]
Chr22:22q11.21-12.1
benign
GRCh37/hg19 22q11.22-11.23(chr22:22976696-25053311)x3 copy number gain See cases [RCV000239999] Chr22:22976696..25053311 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3 copy number gain See cases [RCV000240348] Chr22:16054691..27296513 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
GRCh37/hg19 22q11.23(chr22:24401196-25010751)x3 copy number gain See cases [RCV000240545] Chr22:24401196..25010751 [GRCh37]
Chr22:22q11.23
pathogenic
NM_016327.3(UPB1):c.-11G>A single nucleotide variant Deficiency of beta-ureidopropionase [RCV000292674] Chr22:24495393 [GRCh38]
Chr22:24891361 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.514G>A (p.Glu172Lys) single nucleotide variant Deficiency of beta-ureidopropionase [RCV000264336] Chr22:24513378 [GRCh38]
Chr22:24909346 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.464C>T (p.Ala155Val) single nucleotide variant Deficiency of beta-ureidopropionase [RCV000356477] Chr22:24513328 [GRCh38]
Chr22:24909296 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.1026C>T (p.Leu342=) single nucleotide variant Deficiency of beta-ureidopropionase [RCV000271862] Chr22:24523728 [GRCh38]
Chr22:24919696 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.-27G>C single nucleotide variant Deficiency of beta-ureidopropionase [RCV000346235] Chr22:24495377 [GRCh38]
Chr22:24891345 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.142T>C (p.Ser48Pro) single nucleotide variant Deficiency of beta-ureidopropionase [RCV000314960] Chr22:24500144 [GRCh38]
Chr22:24896112 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.899C>T (p.Ser300Leu) single nucleotide variant Deficiency of beta-ureidopropionase [RCV000325723] Chr22:24522011 [GRCh38]
Chr22:24917979 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.1122G>A (p.Lys374=) single nucleotide variant Deficiency of beta-ureidopropionase [RCV000329229]|not provided [RCV000885439] Chr22:24525761 [GRCh38]
Chr22:24921729 [GRCh37]
Chr22:22q11.23
benign|uncertain significance
NM_016327.3(UPB1):c.-63C>T single nucleotide variant Deficiency of beta-ureidopropionase [RCV000288983] Chr22:24495341 [GRCh38]
Chr22:24891309 [GRCh37]
Chr22:22q11.23
likely benign|uncertain significance
NM_016327.3(UPB1):c.296G>A (p.Arg99His) single nucleotide variant Deficiency of beta-ureidopropionase [RCV000334304] Chr22:24502145 [GRCh38]
Chr22:24898113 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.*619C>T single nucleotide variant Deficiency of beta-ureidopropionase [RCV000336402] Chr22:24526413 [GRCh38]
Chr22:24922381 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.*505A>G single nucleotide variant Deficiency of beta-ureidopropionase [RCV000389484] Chr22:24526299 [GRCh38]
Chr22:24922267 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.1076C>T (p.Thr359Met) single nucleotide variant not provided [RCV000326748] Chr22:24525715 [GRCh38]
Chr22:24921683 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.*23G>A single nucleotide variant Deficiency of beta-ureidopropionase [RCV000385911] Chr22:24525817 [GRCh38]
Chr22:24921785 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.384T>C (p.Cys128=) single nucleotide variant Deficiency of beta-ureidopropionase [RCV000299275] Chr22:24510768 [GRCh38]
Chr22:24906736 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.354G>A (p.Gln118=) single nucleotide variant Deficiency of beta-ureidopropionase [RCV000403430] Chr22:24502203 [GRCh38]
Chr22:24898171 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.*548_*551AAGT[1] microsatellite Deficiency of beta-ureidopropionase [RCV000279049] Chr22:24526341..24526344 [GRCh38]
Chr22:24922309..24922312 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.*690T>G single nucleotide variant Deficiency of beta-ureidopropionase [RCV000301290] Chr22:24526484 [GRCh38]
Chr22:24922452 [GRCh37]
Chr22:22q11.23
benign
NM_016327.3(UPB1):c.-7C>G single nucleotide variant Deficiency of beta-ureidopropionase [RCV000349952] Chr22:24495397 [GRCh38]
Chr22:24891365 [GRCh37]
Chr22:22q11.23
likely benign|uncertain significance
NM_016327.3(UPB1):c.26T>C (p.Leu9Pro) single nucleotide variant Deficiency of beta-ureidopropionase [RCV000406876] Chr22:24495429 [GRCh38]
Chr22:24891397 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.*652A>T single nucleotide variant Deficiency of beta-ureidopropionase [RCV000408401] Chr22:24526446 [GRCh38]
Chr22:24922414 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.889G>A (p.Glu297Lys) single nucleotide variant Deficiency of beta-ureidopropionase [RCV000267807] Chr22:24522001 [GRCh38]
Chr22:24917969 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.*398G>C single nucleotide variant Deficiency of beta-ureidopropionase [RCV000351223] Chr22:24526192 [GRCh38]
Chr22:24922160 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.-65T>C single nucleotide variant Deficiency of beta-ureidopropionase [RCV000381136] Chr22:24495339 [GRCh38]
Chr22:24891307 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.*296dup duplication Deficiency of beta-ureidopropionase [RCV000293946] Chr22:24526079..24526080 [GRCh38]
Chr22:24922047..24922048 [GRCh37]
Chr22:22q11.23
benign
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:23258938-25002659)x3 copy number gain See cases [RCV000446585] Chr22:23258938..25002659 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
NM_016327.3(UPB1):c.10G>A (p.Ala4Thr) single nucleotide variant not provided [RCV000421814] Chr22:24495413 [GRCh38]
Chr22:24891381 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22997802-25002659)x3 copy number gain See cases [RCV000445706] Chr22:22997802..25002659 [GRCh37]
Chr22:22q11.22-11.23
likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:23258229-25046758)x3 copy number gain See cases [RCV000445819] Chr22:23258229..25046758 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.23(chr22:23652517-25042987)x3 copy number gain See cases [RCV000448006] Chr22:23652517..25042987 [GRCh37]
Chr22:22q11.23
uncertain significance
NC_000022.10:g.(?_23667751)_(25041986_?)dup duplication Schizophrenia [RCV000416698] Chr22:23667751..25041986 [GRCh37]
Chr22:21997751..23371986 [NCBI36]
Chr22:22q11.23
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NC_000022.10:g.(?_22971580)_(25041986_?)dup duplication Schizophrenia [RCV000416783] Chr22:22971580..25041986 [GRCh37]
Chr22:21301580..23371986 [NCBI36]
Chr22:22q11.22-11.23
likely pathogenic
NC_000022.10:g.(?_23667751)_(24991609_?)dup duplication Schizophrenia [RCV000416915] Chr22:23667751..24991609 [GRCh37]
Chr22:21997751..23321609 [NCBI36]
Chr22:22q11.23
likely pathogenic
NM_016327.3(UPB1):c.977G>A (p.Arg326Gln) single nucleotide variant Deficiency of beta-ureidopropionase [RCV000490512]|not provided [RCV000514134]|not specified [RCV001449779] Chr22:24523679 [GRCh38]
Chr22:24919647 [GRCh37]
Chr22:22q11.23
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 22q11.23-12.1(chr22:24652837-25970705)x3 copy number gain not provided [RCV000509448] Chr22:24652837..25970705 [GRCh37]
Chr22:22q11.23-12.1
not provided
GRCh37/hg19 22q11.21-11.23(chr22:21798907-24963935)x3 copy number gain See cases [RCV000510487] Chr22:21798907..24963935 [GRCh37]
Chr22:22q11.21-11.23
uncertain significance
GRCh37/hg19 22q11.23(chr22:23690387-25039018)x3 copy number gain See cases [RCV000511883] Chr22:23690387..25039018 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.985G>T (p.Gly329Trp) single nucleotide variant not specified [RCV000493993] Chr22:24523687 [GRCh38]
Chr22:24919655 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22997802-25033630)x3 copy number gain See cases [RCV000511378] Chr22:22997802..25033630 [GRCh37]
Chr22:22q11.22-11.23
uncertain significance
GRCh37/hg19 22q11.23(chr22:23690387-25066472)x3 copy number gain See cases [RCV000511837] Chr22:23690387..25066472 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3 copy number gain See cases [RCV000511098] Chr22:23637907..36614412 [GRCh37]
Chr22:22q11.23-12.3
pathogenic
GRCh37/hg19 22q11.23(chr22:23720171-25065576) copy number gain Cerebellar ataxia [RCV000626496] Chr22:23720171..25065576 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.23(chr22:23653979-25066472)x3 copy number gain See cases [RCV000512168] Chr22:23653979..25066472 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.23(chr22:23652549-25042987)x3 copy number gain See cases [RCV000512454] Chr22:23652549..25042987 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_016327.3(UPB1):c.1099C>G (p.Arg367Gly) single nucleotide variant Deficiency of beta-ureidopropionase [RCV000662083] Chr22:24525738 [GRCh38]
Chr22:24921706 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22951048-25156289)x3 copy number gain not provided [RCV000684506] Chr22:22951048..25156289 [GRCh37]
Chr22:22q11.22-11.23
likely pathogenic
GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3 copy number gain not provided [RCV000684530] Chr22:22460754..35198232 [GRCh37]
Chr22:22q11.22-12.3
pathogenic
GRCh37/hg19 22q11.23(chr22:23650871-25002659)x3 copy number gain not provided [RCV000684494] Chr22:23650871..25002659 [GRCh37]
Chr22:22q11.23
likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22945889-25059631)x3 copy number gain not provided [RCV000684504] Chr22:22945889..25059631 [GRCh37]
Chr22:22q11.22-11.23
pathogenic|likely pathogenic
Single allele duplication Schizophrenia [RCV000754256] Chr22:22624794..24654160 [GRCh38]
Chr22:22q11.22-11.23
likely pathogenic
Single allele duplication Schizophrenia [RCV000754258] Chr22:23317839..24597843 [GRCh38]
Chr22:22q11.23
likely pathogenic
Single allele duplication Schizophrenia [RCV000754259] Chr22:23317839..24654160 [GRCh38]
Chr22:22q11.23
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_016327.3(UPB1):c.-61C>T single nucleotide variant Deficiency of beta-ureidopropionase [RCV001148746] Chr22:24495343 [GRCh38]
Chr22:24891311 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.1027G>A (p.Asp343Asn) single nucleotide variant Deficiency of beta-ureidopropionase [RCV001148856] Chr22:24523729 [GRCh38]
Chr22:24919697 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.903A>G (p.Gly301=) single nucleotide variant Deficiency of beta-ureidopropionase [RCV001146063] Chr22:24522015 [GRCh38]
Chr22:24917983 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.1086T>C (p.Tyr362=) single nucleotide variant Deficiency of beta-ureidopropionase [RCV001148858]|not provided [RCV000951163] Chr22:24525725 [GRCh38]
Chr22:24921693 [GRCh37]
Chr22:22q11.23
benign
NM_016327.3(UPB1):c.792C>A (p.Ser264Arg) single nucleotide variant Deficiency of beta-ureidopropionase [RCV000778649]|not provided [RCV001305775] Chr22:24520387 [GRCh38]
Chr22:24916355 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.219C>T (p.His73=) single nucleotide variant not provided [RCV000902692] Chr22:24500221 [GRCh38]
Chr22:24896189 [GRCh37]
Chr22:22q11.23
likely benign
NM_016327.3(UPB1):c.82G>A (p.Val28Ile) single nucleotide variant Deficiency of beta-ureidopropionase [RCV001150303]|not provided [RCV000962867] Chr22:24495485 [GRCh38]
Chr22:24891453 [GRCh37]
Chr22:22q11.23
likely benign
NM_016327.3(UPB1):c.1107C>T (p.Leu369=) single nucleotide variant Deficiency of beta-ureidopropionase [RCV001150380]|not provided [RCV000971980] Chr22:24525746 [GRCh38]
Chr22:24921714 [GRCh37]
Chr22:22q11.23
benign|likely benign
GRCh37/hg19 22q11.23(chr22:23653987-25158391) copy number gain not provided [RCV000767635] Chr22:23653987..25158391 [GRCh37]
Chr22:22q11.23
likely pathogenic
NM_016327.3(UPB1):c.1092G>A (p.Met364Ile) single nucleotide variant Deficiency of beta-ureidopropionase [RCV001148859] Chr22:24525731 [GRCh38]
Chr22:24921699 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.23(chr22:23650871-25066472)x3 copy number gain not provided [RCV001007176] Chr22:23650871..25066472 [GRCh37]
Chr22:22q11.23
pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22962196-25059631)x3 copy number gain not provided [RCV000847639] Chr22:22962196..25059631 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
NM_016327.3(UPB1):c.*93A>G single nucleotide variant Deficiency of beta-ureidopropionase [RCV001150383] Chr22:24525887 [GRCh38]
Chr22:24921855 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.*179A>C single nucleotide variant Deficiency of beta-ureidopropionase [RCV001150384] Chr22:24525973 [GRCh38]
Chr22:24921941 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.*356G>A single nucleotide variant Deficiency of beta-ureidopropionase [RCV001150385] Chr22:24526150 [GRCh38]
Chr22:24922118 [GRCh37]
Chr22:22q11.23
likely benign
NC_000022.11:g.24495325C>T single nucleotide variant Deficiency of beta-ureidopropionase [RCV001145962] Chr22:24495325 [GRCh38]
Chr22:24891293 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.792C>T (p.Ser264=) single nucleotide variant Deficiency of beta-ureidopropionase [RCV001146061] Chr22:24520387 [GRCh38]
Chr22:24916355 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.822C>T (p.Asn274=) single nucleotide variant Deficiency of beta-ureidopropionase [RCV001146062] Chr22:24520417 [GRCh38]
Chr22:24916385 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.203G>A (p.Arg68Gln) single nucleotide variant Deficiency of beta-ureidopropionase [RCV001150304] Chr22:24500205 [GRCh38]
Chr22:24896173 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22962195-25002659)x3 copy number gain not provided [RCV000846628] Chr22:22962195..25002659 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22998284-25119103)x3 copy number gain Global developmental delay [RCV000787284] Chr22:22998284..25119103 [GRCh37]
Chr22:22q11.22-11.23
likely pathogenic
GRCh37/hg19 22q11.23(chr22:23652517-25002659)x3 copy number gain 22q11.2 distal duplication syndrome [RCV000788073] Chr22:23652517..25002659 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_016327.3(UPB1):c.*3G>A single nucleotide variant Deficiency of beta-ureidopropionase [RCV001150381] Chr22:24525797 [GRCh38]
Chr22:24921765 [GRCh37]
Chr22:22q11.23
benign
GRCh37/hg19 22q11.22-11.23(chr22:22962196-25145601)x3 copy number gain not provided [RCV000845609] Chr22:22962196..25145601 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.23(chr22:23650200-25066472)x3 copy number gain not provided [RCV000849234] Chr22:23650200..25066472 [GRCh37]
Chr22:22q11.23
pathogenic
GRCh37/hg19 22q11.23(chr22:23698818-25042987)x3 copy number gain not provided [RCV000849671] Chr22:23698818..25042987 [GRCh37]
Chr22:22q11.23
pathogenic
GRCh37/hg19 22q11.23(chr22:23650871-25066472)x3 copy number gain not provided [RCV000845636] Chr22:23650871..25066472 [GRCh37]
Chr22:22q11.23
pathogenic
NM_016327.3(UPB1):c.54G>A (p.Pro18=) single nucleotide variant Deficiency of beta-ureidopropionase [RCV001148747] Chr22:24495457 [GRCh38]
Chr22:24891425 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.873+2dup duplication not provided [RCV001576914] Chr22:24520469..24520470 [GRCh38]
Chr22:24916437..24916438 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.684C>T (p.Ile228=) single nucleotide variant Deficiency of beta-ureidopropionase [RCV001144171] Chr22:24515263 [GRCh38]
Chr22:24911231 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.*549A>C single nucleotide variant Deficiency of beta-ureidopropionase [RCV001144290] Chr22:24526343 [GRCh38]
Chr22:24922311 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.888C>T (p.Asn296=) single nucleotide variant not provided [RCV000889254] Chr22:24522000 [GRCh38]
Chr22:24917968 [GRCh37]
Chr22:22q11.23
likely benign
NM_016327.3(UPB1):c.47A>C (p.His16Pro) single nucleotide variant Deficiency of beta-ureidopropionase [RCV000990384] Chr22:24495450 [GRCh38]
Chr22:24891418 [GRCh37]
Chr22:22q11.23
likely benign
GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3 copy number gain not provided [RCV001007163] Chr22:16888899..27657507 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22953514-25002483)x3 copy number gain not provided [RCV001007174] Chr22:22953514..25002483 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.23-12.1(chr22:24311474-26075188)x3 copy number gain See cases [RCV001007417] Chr22:24311474..26075188 [GRCh37]
Chr22:22q11.23-12.1
uncertain significance
NM_016327.3(UPB1):c.225G>T (p.Gly75=) single nucleotide variant Deficiency of beta-ureidopropionase [RCV001150305] Chr22:24500227 [GRCh38]
Chr22:24896195 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.*10G>A single nucleotide variant Deficiency of beta-ureidopropionase [RCV001150382] Chr22:24525804 [GRCh38]
Chr22:24921772 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.310G>A (p.Val104Ile) single nucleotide variant Deficiency of beta-ureidopropionase [RCV001150306] Chr22:24502159 [GRCh38]
Chr22:24898127 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.358G>T (p.Ala120Ser) single nucleotide variant Deficiency of beta-ureidopropionase [RCV001250092] Chr22:24502207 [GRCh38]
Chr22:24898175 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.387G>A (p.Thr129=) single nucleotide variant Deficiency of beta-ureidopropionase [RCV001144169] Chr22:24510771 [GRCh38]
Chr22:24906739 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:20732808-25193541)x3 copy number gain not provided [RCV001007169] Chr22:20732808..25193541 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
NM_016327.3(UPB1):c.1071+10C>T single nucleotide variant Deficiency of beta-ureidopropionase [RCV001148857] Chr22:24523783 [GRCh38]
Chr22:24919751 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.676G>A (p.Gly226Arg) single nucleotide variant Deficiency of beta-ureidopropionase [RCV001144170] Chr22:24515255 [GRCh38]
Chr22:24911223 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3 copy number gain Cat eye syndrome [RCV001263219] Chr22:16888899..26483608 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:23258368-25059827)x3 copy number gain not provided [RCV001258774] Chr22:23258368..25059827 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.23(chr22:23650873-25043046)x3 copy number gain not provided [RCV001258776] Chr22:23650873..25043046 [GRCh37]
Chr22:22q11.23
pathogenic
NM_016327.3(UPB1):c.148_149dup (p.Asp51fs) microsatellite not provided [RCV001255097] Chr22:24500146..24500147 [GRCh38]
Chr22:24896114..24896115 [GRCh37]
Chr22:22q11.23
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.23(chr22:23720181-25066484)x3 copy number gain See cases [RCV001263027] Chr22:23720181..25066484 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.38T>C (p.Leu13Ser) single nucleotide variant Deficiency of beta-ureidopropionase [RCV001328948]|not provided [RCV001567909] Chr22:24495441 [GRCh38]
Chr22:24891409 [GRCh37]
Chr22:22q11.23
likely pathogenic|uncertain significance
NM_016327.3(UPB1):c.807del (p.Ile270fs) deletion Deficiency of beta-ureidopropionase [RCV001328949] Chr22:24520400 [GRCh38]
Chr22:24916368 [GRCh37]
Chr22:22q11.23
pathogenic
NC_000022.10:g.(?_23915453)_(24921762_?)dup duplication Agammaglobulinemia 2, autosomal recessive [RCV001301073] Chr22:23915453..24921762 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_016327.3(UPB1):c.352C>T (p.Gln118Ter) single nucleotide variant not provided [RCV001384430] Chr22:24502201 [GRCh38]
Chr22:24898169 [GRCh37]
Chr22:22q11.23
pathogenic
NM_016327.3(UPB1):c.364+1G>C single nucleotide variant not provided [RCV001378929] Chr22:24502214 [GRCh38]
Chr22:24898182 [GRCh37]
Chr22:22q11.23
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16297 AgrOrtholog
COSMIC UPB1 COSMIC
Ensembl Genes ENSG00000100024 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000324343 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000372208 UniProtKB/TrEMBL
  ENSP00000400684 UniProtKB/TrEMBL
Ensembl Transcript ENST00000326010 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000382760 UniProtKB/TrEMBL
  ENST00000415388 UniProtKB/TrEMBL
Gene3D-CATH 3.60.110.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000100024 GTEx
HGNC ID HGNC:16297 ENTREZGENE
Human Proteome Map UPB1 Human Proteome Map
InterPro C-N_Hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C-N_Hydrolase_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51733 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 51733 ENTREZGENE
OMIM 606673 OMIM
  613161 OMIM
Pfam CN_hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA418 PharmGKB, RGD
PROSITE CN_HYDROLASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56317 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R1H3 ENTREZGENE, UniProtKB/TrEMBL
  A4QPH4_HUMAN UniProtKB/TrEMBL
  B3KNC1 ENTREZGENE, UniProtKB/TrEMBL
  BUP1_HUMAN UniProtKB/Swiss-Prot
  F8WC94_HUMAN UniProtKB/TrEMBL
  Q6AHZ8_HUMAN UniProtKB/TrEMBL
  Q9UBR1 ENTREZGENE
UniProt Secondary A3KMF8 UniProtKB/Swiss-Prot
  C9JYD2 UniProtKB/TrEMBL
  Q9UIR3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-19 UPB1  beta-ureidopropionase 1    ureidopropionase, beta  Symbol and/or name change 5135510 APPROVED
2011-09-01 UPB1  ureidopropionase, beta  UPB1  ureidopropionase, beta  Symbol and/or name change 5135510 APPROVED