PNPO (pyridoxamine 5'-phosphate oxidase) - Rat Genome Database

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Gene: PNPO (pyridoxamine 5'-phosphate oxidase) Homo sapiens
Analyze
Symbol: PNPO
Name: pyridoxamine 5'-phosphate oxidase
RGD ID: 1352951
HGNC Page HGNC
Description: Enables anion binding activity; protein homodimerization activity; and pyridoxamine-phosphate oxidase activity. Involved in pyridoxal phosphate biosynthetic process. Predicted to be located in cytosol. Implicated in pyridoxamine 5'-phosphate oxidase deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: epididymis secretory protein Li 302; FLJ10535; HEL-S-302; PDXPO; pyridoxal 5'-phosphate synthase; pyridoxamine-phosphate oxidase; pyridoxine 5'-phosphate oxidase; pyridoxine-5'-phosphate oxidase
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 Ensembl1747,941,506 - 47,949,308 (+)EnsemblGRCh38hg38GRCh38
GRCh381747,941,524 - 47,949,308 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371746,018,937 - 46,026,674 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361743,373,916 - 43,381,673 (+)NCBINCBI36hg18NCBI36
Build 341743,373,935 - 43,380,653NCBI
Celera1742,471,698 - 42,479,495 (+)NCBI
Cytogenetic Map17q21.32NCBI
HuRef1741,387,555 - 41,395,352 (+)NCBIHuRef
CHM1_11746,083,871 - 46,091,657 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (TAS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:8125298   PMID:8889548   PMID:10024608   PMID:12477932   PMID:12824491   PMID:14702039   PMID:15182361   PMID:15489334   PMID:15772097   PMID:16344560   PMID:17851041   PMID:18485777  
PMID:19322201   PMID:19759001   PMID:21283685   PMID:21832049   PMID:21873635   PMID:22020285   PMID:22939629   PMID:22949513   PMID:23376485   PMID:24645144   PMID:24658933   PMID:25910212  
PMID:26186194   PMID:26344197   PMID:26496610   PMID:26535729   PMID:28514442   PMID:28818555   PMID:29238081   PMID:30585266   PMID:30945288   PMID:30982780   PMID:32296183   PMID:32694731  
PMID:32788630   PMID:32888189   PMID:33187986  


Genomics

Comparative Map Data
PNPO
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1747,941,506 - 47,949,308 (+)EnsemblGRCh38hg38GRCh38
GRCh381747,941,524 - 47,949,308 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371746,018,937 - 46,026,674 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361743,373,916 - 43,381,673 (+)NCBINCBI36hg18NCBI36
Build 341743,373,935 - 43,380,653NCBI
Celera1742,471,698 - 42,479,495 (+)NCBI
Cytogenetic Map17q21.32NCBI
HuRef1741,387,555 - 41,395,352 (+)NCBIHuRef
CHM1_11746,083,871 - 46,091,657 (+)NCBICHM1_1
Pnpo
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391196,828,642 - 96,834,845 (-)NCBIGRCm39mm39
GRCm39 Ensembl1196,828,651 - 96,834,812 (-)Ensembl
GRCm381196,937,816 - 96,944,019 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1196,937,825 - 96,943,986 (-)EnsemblGRCm38mm10GRCm38
MGSCv371196,799,130 - 96,805,333 (-)NCBIGRCm37mm9NCBIm37
MGSCv361196,753,917 - 96,770,309 (-)NCBImm8
Celera11106,585,705 - 106,591,891 (-)NCBICelera
Cytogenetic Map11DNCBI
Pnpo
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21081,924,584 - 81,930,844 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1081,924,569 - 81,930,871 (-)Ensembl
Rnor_6.01084,874,926 - 84,881,190 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1084,874,927 - 84,881,190 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01084,665,835 - 84,672,099 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.11545,408,393 - 45,421,097NCBI
Celera1080,686,370 - 80,692,634 (-)NCBICelera
Cytogenetic Map10q31NCBI
Pnpo
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545113,183,826 - 13,191,707 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545113,184,861 - 13,190,933 (-)NCBIChiLan1.0ChiLan1.0
PNPO
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1179,773,052 - 9,778,922 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl179,773,052 - 9,778,922 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0179,589,253 - 9,596,973 (-)NCBIMhudiblu_PPA_v0panPan3
PNPO
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1924,252,895 - 24,258,523 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl924,252,964 - 24,258,106 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha923,719,116 - 23,724,734 (+)NCBI
ROS_Cfam_1.0925,046,154 - 25,052,008 (+)NCBI
UMICH_Zoey_3.1923,816,257 - 23,821,968 (+)NCBI
UNSW_CanFamBas_1.0924,077,084 - 24,082,942 (+)NCBI
UU_Cfam_GSD_1.0924,203,867 - 24,209,469 (+)NCBI
Pnpo
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560223,693,129 - 23,700,206 (+)NCBI
SpeTri2.0NW_00493649013,374,925 - 13,382,037 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PNPO
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1224,192,897 - 24,201,414 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11224,192,848 - 24,201,419 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21223,993,281 - 23,998,372 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PNPO
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11668,338,847 - 68,360,492 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1668,338,936 - 68,344,050 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607739,393,051 - 39,398,955 (+)NCBIVero_WHO_p1.0
Pnpo
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247954,574,902 - 4,580,884 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
D17S1785  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371746,021,549 - 46,021,635UniSTSGRCh37
Build 361743,376,548 - 43,376,634RGDNCBI36
Celera1742,474,358 - 42,474,456RGD
Cytogenetic Map17q21.32UniSTS
HuRef1741,390,215 - 41,390,313UniSTS
Marshfield Genetic Map1766.85UniSTS
Marshfield Genetic Map1766.85RGD
Genethon Genetic Map1767.6UniSTS
deCODE Assembly Map1774.32UniSTS
D17S2044  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371746,022,186 - 46,022,366UniSTSGRCh37
Build 361743,377,185 - 43,377,365RGDNCBI36
Celera1742,475,007 - 42,475,187RGD
Cytogenetic Map17q21.32UniSTS
HuRef1741,390,864 - 41,391,044UniSTS
Whitehead-RH Map17372.6UniSTS
Whitehead-YAC Contig Map17 UniSTS
NCBI RH Map17592.7UniSTS
STS-AA005137  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371746,026,111 - 46,026,352UniSTSGRCh37
GRCh371746,026,445 - 46,026,662UniSTSGRCh37
Build 361743,381,444 - 43,381,661RGDNCBI36
Celera1742,478,932 - 42,479,173UniSTS
Celera1742,479,266 - 42,479,483RGD
Cytogenetic Map17q21.32UniSTS
HuRef1741,395,123 - 41,395,340UniSTS
HuRef1741,394,789 - 41,395,030UniSTS
GeneMap99-GB4 RH Map17337.07UniSTS
NCBI RH Map17603.8UniSTS
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS
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
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Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
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
STS-AA005137  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q21.32UniSTS
GeneMap99-GB4 RH Map17338.99UniSTS
NCBI RH Map17638.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3451
Count of miRNA genes:903
Interacting mature miRNAs:1092
Transcripts:ENST00000225573, ENST00000434554, ENST00000534893, ENST00000544840, ENST00000582171, ENST00000583245, ENST00000583599, ENST00000584061, ENST00000584806, ENST00000585320
Prediction methods:Microtar, Miranda, Pita, 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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 625 340 1522 519 807 442 1703 696 2256 343 718 1224 91 283 1215 4 2
Low 1814 2608 204 105 1109 23 2654 1492 1478 75 742 389 84 1 921 1573 2
Below cutoff 43 35 9 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005257500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC018521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF468030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB853441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA186382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB228906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ224333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ900985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000225573   ⟹   ENSP00000225573
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1747,941,567 - 47,948,272 (+)Ensembl
RefSeq Acc Id: ENST00000434554   ⟹   ENSP00000399960
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1747,941,571 - 47,947,141 (+)Ensembl
RefSeq Acc Id: ENST00000582171   ⟹   ENSP00000463994
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1747,941,596 - 47,947,413 (+)Ensembl
RefSeq Acc Id: ENST00000583245
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1747,941,708 - 47,945,989 (+)Ensembl
RefSeq Acc Id: ENST00000583599   ⟹   ENSP00000463919
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1747,941,506 - 47,946,733 (+)Ensembl
RefSeq Acc Id: ENST00000584061   ⟹   ENSP00000463972
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1747,941,706 - 47,946,788 (+)Ensembl
RefSeq Acc Id: ENST00000584806
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1747,945,398 - 47,949,267 (+)Ensembl
RefSeq Acc Id: ENST00000585320   ⟹   ENSP00000462345
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1747,941,618 - 47,946,749 (+)Ensembl
RefSeq Acc Id: ENST00000641285
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1747,942,009 - 47,946,704 (+)Ensembl
RefSeq Acc Id: ENST00000641305
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1747,941,601 - 47,947,812 (+)Ensembl
RefSeq Acc Id: ENST00000641323   ⟹   ENSP00000492965
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1747,941,548 - 47,949,287 (+)Ensembl
RefSeq Acc Id: ENST00000641427
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1747,941,996 - 47,947,407 (+)Ensembl
RefSeq Acc Id: ENST00000641511   ⟹   ENSP00000493348
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1747,941,761 - 47,946,717 (+)Ensembl
RefSeq Acc Id: ENST00000641703   ⟹   ENSP00000493219
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1747,941,781 - 47,947,411 (+)Ensembl
RefSeq Acc Id: ENST00000641709   ⟹   ENSP00000493349
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1747,941,524 - 47,949,113 (+)Ensembl
RefSeq Acc Id: ENST00000641856   ⟹   ENSP00000493224
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1747,941,587 - 47,947,808 (+)Ensembl
RefSeq Acc Id: ENST00000642017   ⟹   ENSP00000493302
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1747,941,571 - 47,949,308 (+)Ensembl
RefSeq Acc Id: NM_018129   ⟹   NP_060599
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381747,941,571 - 47,949,308 (+)NCBI
GRCh371746,018,889 - 46,026,674 (+)ENTREZGENE
GRCh371746,018,889 - 46,026,674 (+)NCBI
Build 361743,373,916 - 43,381,673 (+)NCBI Archive
HuRef1741,387,555 - 41,395,352 (+)ENTREZGENE
CHM1_11746,083,871 - 46,091,657 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005257500   ⟹   XP_005257557
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381747,941,571 - 47,949,308 (+)NCBI
GRCh371746,018,889 - 46,026,674 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011524968   ⟹   XP_011523270
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381747,941,625 - 47,949,308 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017024813   ⟹   XP_016880302
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381747,941,524 - 47,949,308 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_060599   ⟸   NM_018129
- UniProtKB: Q9NVS9 (UniProtKB/Swiss-Prot),   V9HW45 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005257557   ⟸   XM_005257500
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011523270   ⟸   XM_011524968
- Peptide Label: isoform X2
- UniProtKB: Q9NVS9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016880302   ⟸   XM_017024813
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000463994   ⟸   ENST00000582171
RefSeq Acc Id: ENSP00000463919   ⟸   ENST00000583599
RefSeq Acc Id: ENSP00000463972   ⟸   ENST00000584061
RefSeq Acc Id: ENSP00000462345   ⟸   ENST00000585320
RefSeq Acc Id: ENSP00000493348   ⟸   ENST00000641511
RefSeq Acc Id: ENSP00000492965   ⟸   ENST00000641323
RefSeq Acc Id: ENSP00000493224   ⟸   ENST00000641856
RefSeq Acc Id: ENSP00000493349   ⟸   ENST00000641709
RefSeq Acc Id: ENSP00000493219   ⟸   ENST00000641703
RefSeq Acc Id: ENSP00000493302   ⟸   ENST00000642017
RefSeq Acc Id: ENSP00000399960   ⟸   ENST00000434554
RefSeq Acc Id: ENSP00000225573   ⟸   ENST00000225573
Protein Domains
PNP_phzG_C   Putative_PNPOx

Promoters
RGD ID:6794457
Promoter ID:HG_KWN:26472
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000225573,   OTTHUMT00000255703,   OTTHUMT00000255704,   OTTHUMT00000255705
Position:
Human AssemblyChrPosition (strand)Source
Build 361743,373,636 - 43,374,136 (+)MPROMDB
RGD ID:7235441
Promoter ID:EPDNEW_H23467
Type:initiation region
Name:PNPO_1
Description:pyridoxamine 5'-phosphate oxidase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381747,941,625 - 47,941,685EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2
pathogenic
NM_018129.4(PNPO):c.364-1G>A single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000006897] Chr17:47945558 [GRCh38]
Chr17:46022924 [GRCh37]
Chr17:17q21.32
pathogenic
NM_018129.4(PNPO):c.685C>T (p.Arg229Trp) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000006896] Chr17:47946681 [GRCh38]
Chr17:46024047 [GRCh37]
Chr17:17q21.32
pathogenic
NM_018129.4(PNPO):c.784T>C (p.Ter262Gln) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000006898] Chr17:47946780 [GRCh38]
Chr17:46024146 [GRCh37]
Chr17:17q21.32
pathogenic
NM_018129.4(PNPO):c.520C>T (p.Gln174Ter) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000006899] Chr17:47945963 [GRCh38]
Chr17:46023329 [GRCh37]
Chr17:17q21.32
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
GRCh38/hg38 17q21.31-21.33(chr17:44955325-49381173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052480]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052480]|See cases [RCV000052480] Chr17:44955325..49381173 [GRCh38]
Chr17:43032693..47458535 [GRCh37]
Chr17:40388219..44813534 [NCBI36]
Chr17:17q21.31-21.33
pathogenic
NM_018129.4(PNPO):c.456G>A (p.Glu152=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001502531] Chr17:47945899 [GRCh38]
Chr17:46023265 [GRCh37]
Chr17:43378264 [NCBI36]
Chr17:17q21.32
likely benign|not provided
NM_024320.3(PRR15L):c.120G>A (p.Pro40=) single nucleotide variant Malignant melanoma [RCV000071537] Chr17:47953115 [GRCh38]
Chr17:46030481 [GRCh37]
Chr17:43385480 [NCBI36]
Chr17:17q21.32
not provided
NM_018129.4(PNPO):c.165C>T (p.Ser55=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000297776]|Seizures [RCV000715292]|not provided [RCV000712784]|not specified [RCV000118001] Chr17:47943332 [GRCh38]
Chr17:46020698 [GRCh37]
Chr17:17q21.32
benign|likely benign|conflicting interpretations of pathogenicity
NM_018129.4(PNPO):c.347G>A (p.Arg116Gln) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000357367]|Seizures [RCV000715529]|not specified [RCV000118002] Chr17:47944699 [GRCh38]
Chr17:46022065 [GRCh37]
Chr17:17q21.32
benign|likely benign|conflicting interpretations of pathogenicity
NM_018129.4(PNPO):c.486C>G (p.Pro162=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000231405]|Seizures [RCV000715744]|not provided [RCV000712785]|not specified [RCV000118003] Chr17:47945929 [GRCh38]
Chr17:46023295 [GRCh37]
Chr17:17q21.32
benign|likely benign|conflicting interpretations of pathogenicity
NM_018129.4(PNPO):c.552G>A (p.Leu184=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000358741]|Seizures [RCV000715521]|not specified [RCV000118004] Chr17:47946328 [GRCh38]
Chr17:46023694 [GRCh37]
Chr17:17q21.32
benign|likely benign|conflicting interpretations of pathogenicity
NM_018129.4(PNPO):c.500T>C (p.Ile167Thr) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000644625]|not specified [RCV000127503] Chr17:47945943 [GRCh38]
Chr17:46023309 [GRCh37]
Chr17:17q21.32
benign|uncertain significance
NM_018129.4(PNPO):c.546+15G>A single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000301671]|not specified [RCV000127504] Chr17:47946004 [GRCh38]
Chr17:46023370 [GRCh37]
Chr17:17q21.32
benign|likely benign
NM_018129.4(PNPO):c.723C>G (p.Ser241=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001083205]|not provided [RCV000724341]|not specified [RCV000186649] Chr17:47946719 [GRCh38]
Chr17:46024085 [GRCh37]
Chr17:17q21.32
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1
pathogenic
NM_018129.4(PNPO):c.123C>T (p.Tyr41=) single nucleotide variant not provided [RCV000173462] Chr17:47941798 [GRCh38]
Chr17:46019164 [GRCh37]
Chr17:17q21.32
uncertain significance
GRCh38/hg38 17q21.32(chr17:47686487-47986961)x1 copy number loss See cases [RCV000134967] Chr17:47686487..47986961 [GRCh38]
Chr17:45763853..46064327 [GRCh37]
Chr17:43118852..43419326 [NCBI36]
Chr17:17q21.32
likely pathogenic|uncertain significance
NM_018129.4(PNPO):c.119G>A (p.Ser40Asn) single nucleotide variant not specified [RCV000195225] Chr17:47941794 [GRCh38]
Chr17:46019160 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.306C>T (p.Phe102=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000544247]|not specified [RCV000188483] Chr17:47944658 [GRCh38]
Chr17:46022024 [GRCh37]
Chr17:17q21.32
benign|likely benign
NM_018129.4(PNPO):c.-1dup (p.Met1fs) duplication not specified [RCV000188486] Chr17:47941669..47941670 [GRCh38]
Chr17:46019035..46019036 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.340G>A (p.Glu114Lys) single nucleotide variant not provided [RCV000188492] Chr17:47944692 [GRCh38]
Chr17:46022058 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.3(PNPO):c.547-2A>T single nucleotide variant not provided [RCV000188497] Chr17:47946321 [GRCh38]
Chr17:46023687 [GRCh37]
Chr17:17q21.32
pathogenic
NM_018129.4(PNPO):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV000188504] Chr17:47941677 [GRCh38]
Chr17:46019043 [GRCh37]
Chr17:17q21.32
pathogenic
NM_018129.4(PNPO):c.89C>T (p.Ala30Val) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000816852]|not provided [RCV000188505] Chr17:47941764 [GRCh38]
Chr17:46019130 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.448_451del (p.Pro150fs) deletion Pyridoxal phosphate-responsive seizures [RCV000194659]|not provided [RCV000188508] Chr17:47945888..47945891 [GRCh38]
Chr17:46023254..46023257 [GRCh37]
Chr17:17q21.32
pathogenic|likely pathogenic
NM_018129.4(PNPO):c.-28A>G single nucleotide variant not specified [RCV000188484] Chr17:47941648 [GRCh38]
Chr17:46019014 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.-6C>A single nucleotide variant not specified [RCV000188485] Chr17:47941670 [GRCh38]
Chr17:46019036 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.12G>T (p.Trp4Cys) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000822924]|not provided [RCV000188487] Chr17:47941687 [GRCh38]
Chr17:46019053 [GRCh37]
Chr17:17q21.32
likely benign|uncertain significance
NM_018129.4(PNPO):c.148G>A (p.Glu50Lys) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001042917]|not provided [RCV000188488] Chr17:47943315 [GRCh38]
Chr17:46020681 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.167T>G (p.Leu56Arg) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000531770]|not provided [RCV000188489] Chr17:47943334 [GRCh38]
Chr17:46020700 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.471C>A (p.Tyr157Ter) single nucleotide variant not provided [RCV000188490] Chr17:47945914 [GRCh38]
Chr17:46023280 [GRCh37]
Chr17:17q21.32
pathogenic
NM_018129.4(PNPO):c.307G>A (p.Gly103Arg) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000799614]|not provided [RCV000725551] Chr17:47944659 [GRCh38]
Chr17:46022025 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.363+6T>C single nucleotide variant not provided [RCV000188493] Chr17:47944721 [GRCh38]
Chr17:46022087 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.481C>T (p.Arg161Cys) single nucleotide variant not provided [RCV000188494] Chr17:47945924 [GRCh38]
Chr17:46023290 [GRCh37]
Chr17:17q21.32
likely pathogenic
NM_018129.4(PNPO):c.493A>G (p.Ser165Gly) single nucleotide variant not provided [RCV000188495] Chr17:47945936 [GRCh38]
Chr17:46023302 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.542G>A (p.Arg181Gln) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000692339]|not specified [RCV000188496] Chr17:47945985 [GRCh38]
Chr17:46023351 [GRCh37]
Chr17:17q21.32
likely pathogenic|uncertain significance
NM_018129.4(PNPO):c.673C>T (p.Arg225Cys) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000850584]|not provided [RCV000188498] Chr17:47946669 [GRCh38]
Chr17:46024035 [GRCh37]
Chr17:17q21.32
pathogenic
NM_018129.4(PNPO):c.674G>T (p.Arg225Leu) single nucleotide variant not provided [RCV000188499] Chr17:47946670 [GRCh38]
Chr17:46024036 [GRCh37]
Chr17:17q21.32
pathogenic
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000208780]|not provided [RCV000188500] Chr17:47946682 [GRCh38]
Chr17:46024048 [GRCh37]
Chr17:17q21.32
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_018129.4(PNPO):c.698G>A (p.Arg233Gln) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000696565]|not provided [RCV000188501] Chr17:47946694 [GRCh38]
Chr17:46024060 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.700C>T (p.Arg234Trp) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001241692]|not provided [RCV000188502] Chr17:47946696 [GRCh38]
Chr17:46024062 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.782C>T (p.Pro261Leu) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000475544]|not provided [RCV000188503] Chr17:47946778 [GRCh38]
Chr17:46024144 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.98A>T (p.Asp33Val) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000697945]|not provided [RCV000188506] Chr17:47941773 [GRCh38]
Chr17:46019139 [GRCh37]
Chr17:17q21.32
pathogenic
NM_018129.4(PNPO):c.544G>A (p.Glu182Lys) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000537518]|not provided [RCV000188507] Chr17:47945987 [GRCh38]
Chr17:46023353 [GRCh37]
Chr17:17q21.32
conflicting interpretations of pathogenicity|uncertain significance
NM_018129.4(PNPO):c.674G>A (p.Arg225His) single nucleotide variant Distal hereditary motor neuronopathy type 5 [RCV000825022]|Pyridoxal phosphate-responsive seizures [RCV000208779]|Seizures [RCV000414812]|not provided [RCV001090956] Chr17:47946670 [GRCh38]
Chr17:46024036 [GRCh37]
Chr17:17q21.32
pathogenic
NM_018129.4(PNPO):c.139-4C>G single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001439801]|Seizures [RCV000720217]|not specified [RCV000251975] Chr17:47943302 [GRCh38]
Chr17:46020668 [GRCh37]
Chr17:17q21.32
likely benign|uncertain significance
NM_018129.4(PNPO):c.754G>A (p.Glu252Lys) single nucleotide variant not specified [RCV000517632] Chr17:47946750 [GRCh38]
Chr17:46024116 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.251C>G (p.Ala84Gly) single nucleotide variant not provided [RCV000490130] Chr17:47943418 [GRCh38]
Chr17:46020784 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.-17G>A single nucleotide variant not specified [RCV000605622] Chr17:47941659 [GRCh38]
Chr17:46019025 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.3(PNPO):c.*2535_*2539delCAACC deletion Pyridoxal phosphate-responsive seizures [RCV000337202] Chr17:47949317..47949321 [GRCh38]
Chr17:46026683..46026687 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.668C>T (p.Thr223Ile) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000266322] Chr17:47946664 [GRCh38]
Chr17:46024030 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.*200C>T single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000272040] Chr17:47946982 [GRCh38]
Chr17:46024348 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.*1048C>T single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000272383] Chr17:47947830 [GRCh38]
Chr17:46025196 [GRCh37]
Chr17:17q21.32
benign|likely benign
NM_018129.4(PNPO):c.*1393G>A single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000275810] Chr17:47948175 [GRCh38]
Chr17:46025541 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.*611C>T single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000279067] Chr17:47947393 [GRCh38]
Chr17:46024759 [GRCh37]
Chr17:17q21.32
benign|likely benign
NM_018129.4(PNPO):c.*1757G>T single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000279705] Chr17:47948539 [GRCh38]
Chr17:46025905 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.*738_*744TTCTTTT[3] microsatellite Pyridoxal phosphate-responsive seizures [RCV000282152] Chr17:47947515..47947516 [GRCh38]
Chr17:46024881..46024882 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.*1883G>C single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000283286] Chr17:47948665 [GRCh38]
Chr17:46026031 [GRCh37]
Chr17:17q21.32
benign|likely benign
NM_018129.4(PNPO):c.*301C>A single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000294183] Chr17:47947083 [GRCh38]
Chr17:46024449 [GRCh37]
Chr17:17q21.32
likely benign|uncertain significance
NM_018129.4(PNPO):c.*825C>A single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000304654] Chr17:47947607 [GRCh38]
Chr17:46024973 [GRCh37]
Chr17:17q21.32
benign
NM_018129.4(PNPO):c.*945C>T single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000307737] Chr17:47947727 [GRCh38]
Chr17:46025093 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.3(PNPO):c.-115G>A single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000315246] Chr17:47941561 [GRCh38]
Chr17:46018927 [GRCh37]
Chr17:17q21.32
likely benign|uncertain significance
NM_018129.4(PNPO):c.*1777C>G single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000318371] Chr17:47948559 [GRCh38]
Chr17:46025925 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.*72C>T single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000323808] Chr17:47946854 [GRCh38]
Chr17:46024220 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.*272T>G single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000329564] Chr17:47947054 [GRCh38]
Chr17:46024420 [GRCh37]
Chr17:17q21.32
likely benign|uncertain significance
NM_018129.4(PNPO):c.*1123G>A single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000329736] Chr17:47947905 [GRCh38]
Chr17:46025271 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.*352G>C single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000332855] Chr17:47947134 [GRCh38]
Chr17:46024500 [GRCh37]
Chr17:17q21.32
benign|likely benign
NM_018129.4(PNPO):c.*1580G>A single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000333110] Chr17:47948362 [GRCh38]
Chr17:46025728 [GRCh37]
Chr17:17q21.32
benign|uncertain significance
NM_018129.4(PNPO):c.*656_*657dup duplication Pyridoxal phosphate-responsive seizures [RCV000336128] Chr17:47947425..47947426 [GRCh38]
Chr17:46024791..46024792 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.*764dup duplication Pyridoxal phosphate-responsive seizures [RCV000339580] Chr17:47947534..47947535 [GRCh38]
Chr17:46024900..46024901 [GRCh37]
Chr17:17q21.32
benign
NM_018129.4(PNPO):c.*2008A>G single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000340353] Chr17:47948790 [GRCh38]
Chr17:46026156 [GRCh37]
Chr17:17q21.32
benign
NM_018129.4(PNPO):c.-19A>G single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000351384] Chr17:47941657 [GRCh38]
Chr17:46019023 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.*895C>T single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000361806] Chr17:47947677 [GRCh38]
Chr17:46025043 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.*106A>T single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000364334] Chr17:47946888 [GRCh38]
Chr17:46024254 [GRCh37]
Chr17:17q21.32
benign|likely benign
NM_018129.4(PNPO):c.*958G>T single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000364745] Chr17:47947740 [GRCh38]
Chr17:46025106 [GRCh37]
Chr17:17q21.32
likely benign|uncertain significance
NM_018129.4(PNPO):c.*1151C>T single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000368024] Chr17:47947933 [GRCh38]
Chr17:46025299 [GRCh37]
Chr17:17q21.32
likely benign|uncertain significance
NM_018129.4(PNPO):c.*1668G>A single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000371453] Chr17:47948450 [GRCh38]
Chr17:46025816 [GRCh37]
Chr17:17q21.32
benign|likely benign
NM_018129.4(PNPO):c.*1842A>G single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000375420] Chr17:47948624 [GRCh38]
Chr17:46025990 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.*282_*283insAG insertion Pyridoxal phosphate-responsive seizures [RCV000386381] Chr17:47947063..47947064 [GRCh38]
Chr17:46024429..46024430 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.*512A>C single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000389748] Chr17:47947294 [GRCh38]
Chr17:46024660 [GRCh37]
Chr17:17q21.32
benign
NM_018129.4(PNPO):c.*904A>G single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000394753] Chr17:47947686 [GRCh38]
Chr17:46025052 [GRCh37]
Chr17:17q21.32
benign
NM_018129.4(PNPO):c.*791G>A single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000394758] Chr17:47947573 [GRCh38]
Chr17:46024939 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.-18C>T single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000397144]|not provided [RCV000767317] Chr17:47941658 [GRCh38]
Chr17:46019024 [GRCh37]
Chr17:17q21.32
uncertain significance|not provided
NM_018129.4(PNPO):c.*731del deletion Pyridoxal phosphate-responsive seizures [RCV000404068] Chr17:47947504 [GRCh38]
Chr17:46024870 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.*2490C>T single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000406230] Chr17:47949272 [GRCh38]
Chr17:46026638 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.395A>G (p.Tyr132Cys) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000768042] Chr17:47945590 [GRCh38]
Chr17:46022956 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.236_241del (p.Asn79_Ala80del) deletion not provided [RCV000592434] Chr17:47943399..47943404 [GRCh38]
Chr17:46020765..46020770 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.628G>T (p.Val210Phe) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001217215]|not provided [RCV000728372] Chr17:47946624 [GRCh38]
Chr17:46023990 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.422G>A (p.Arg141His) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000822604]|not provided [RCV000731181] Chr17:47945865 [GRCh38]
Chr17:46023231 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.727T>C (p.Leu243=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001452807]|not provided [RCV000992670]|not specified [RCV000417863] Chr17:47946723 [GRCh38]
Chr17:46024089 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.147G>A (p.Glu49=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001480808]|not provided [RCV000861705]|not specified [RCV000431886] Chr17:47943314 [GRCh38]
Chr17:46020680 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.-38G>C single nucleotide variant not specified [RCV000421495] Chr17:47941638 [GRCh38]
Chr17:46019004 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.547-17C>G single nucleotide variant not specified [RCV000435481] Chr17:47946306 [GRCh38]
Chr17:46023672 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.138+13G>A single nucleotide variant not specified [RCV000419103] Chr17:47941826 [GRCh38]
Chr17:46019192 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.777T>C (p.Leu259=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001397872]|not provided [RCV000864559]|not specified [RCV000425232] Chr17:47946773 [GRCh38]
Chr17:46024139 [GRCh37]
Chr17:17q21.32
benign|likely benign
NM_018129.4(PNPO):c.3G>T (p.Met1Ile) single nucleotide variant not provided [RCV000432032] Chr17:47941678 [GRCh38]
Chr17:46019044 [GRCh37]
Chr17:17q21.32
likely pathogenic
NM_018129.4(PNPO):c.399G>A (p.Trp133Ter) single nucleotide variant not provided [RCV000439228] Chr17:47945594 [GRCh38]
Chr17:46022960 [GRCh37]
Chr17:17q21.32
likely pathogenic
NM_018129.4(PNPO):c.433C>T (p.Pro145Ser) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001342760]|not provided [RCV000444875] Chr17:47945876 [GRCh38]
Chr17:46023242 [GRCh37]
Chr17:17q21.32
uncertain significance
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3
pathogenic
NM_018129.4(PNPO):c.91G>C (p.Ala31Pro) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000463348] Chr17:47941766 [GRCh38]
Chr17:46019132 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.264-2A>G single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000468236]|not provided [RCV000992669] Chr17:47944614 [GRCh38]
Chr17:46021980 [GRCh37]
Chr17:17q21.32
likely pathogenic
NM_018129.4(PNPO):c.168T>G (p.Leu56=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000469471] Chr17:47943335 [GRCh38]
Chr17:46020701 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.598G>A (p.Val200Met) single nucleotide variant not provided [RCV000497918] Chr17:47946374 [GRCh38]
Chr17:46023740 [GRCh37]
Chr17:17q21.32
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_018129.4(PNPO):c.539_541dup (p.Arg181_Glu182insHis) duplication Pyridoxal phosphate-responsive seizures [RCV001319157]|not provided [RCV000494264] Chr17:47945981..47945982 [GRCh38]
Chr17:46023347..46023348 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.322C>T (p.Arg108Cys) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000803219]|Seizures [RCV001255047]|not provided [RCV000492833] Chr17:47944674 [GRCh38]
Chr17:46022040 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.540T>C (p.Asp180=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001442612]|not provided [RCV000828430] Chr17:47945983 [GRCh38]
Chr17:46023349 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.132C>T (p.Asp44=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001465831]|not provided [RCV000938628]|not specified [RCV000606958] Chr17:47941807 [GRCh38]
Chr17:46019173 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.28G>C (p.Ala10Pro) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000644624] Chr17:47941703 [GRCh38]
Chr17:46019069 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.767A>G (p.Tyr256Cys) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000537828] Chr17:47946763 [GRCh38]
Chr17:46024129 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.684C>T (p.Asp228=) single nucleotide variant not specified [RCV000612665] Chr17:47946680 [GRCh38]
Chr17:46024046 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.393C>T (p.Phe131=) single nucleotide variant not provided [RCV000982724]|not specified [RCV000616143] Chr17:47945588 [GRCh38]
Chr17:46022954 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.-24G>A single nucleotide variant not specified [RCV000600997] Chr17:47941652 [GRCh38]
Chr17:46019018 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.546+14C>T single nucleotide variant not specified [RCV000604394] Chr17:47946003 [GRCh38]
Chr17:46023369 [GRCh37]
Chr17:17q21.32
likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_018129.4(PNPO):c.281C>T (p.Ala94Val) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000625618] Chr17:47944633 [GRCh38]
Chr17:46021999 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.37G>T (p.Gly13Trp) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001218278]|not provided [RCV000594305] Chr17:47941712 [GRCh38]
Chr17:46019078 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.759C>G (p.Asp253Glu) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000698165] Chr17:47946755 [GRCh38]
Chr17:46024121 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.20G>A (p.Gly7Asp) single nucleotide variant not provided [RCV000658266] Chr17:47941695 [GRCh38]
Chr17:46019061 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.155A>C (p.His52Pro) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001047815]|not provided [RCV000658470] Chr17:47943322 [GRCh38]
Chr17:46020688 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.626A>G (p.Tyr209Cys) single nucleotide variant Seizures [RCV000716229] Chr17:47946622 [GRCh38]
Chr17:46023988 [GRCh37]
Chr17:17q21.32
uncertain significance
GRCh37/hg19 17q21.32(chr17:45884442-46124946)x3 copy number gain not provided [RCV000683940] Chr17:45884442..46124946 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.16C>A (p.Arg6=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001127768]|Seizures [RCV000717155] Chr17:47941691 [GRCh38]
Chr17:46019057 [GRCh37]
Chr17:17q21.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018129.4(PNPO):c.226G>A (p.Gly76Arg) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000692265] Chr17:47943393 [GRCh38]
Chr17:46020759 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.323G>T (p.Arg108Leu) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000707078] Chr17:47944675 [GRCh38]
Chr17:46022041 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.385C>T (p.Leu129Phe) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000705367] Chr17:47945580 [GRCh38]
Chr17:46022946 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.697C>T (p.Arg233Trp) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000810123]|Seizures [RCV000720240]|not provided [RCV001576788] Chr17:47946693 [GRCh38]
Chr17:46024059 [GRCh37]
Chr17:17q21.32
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_018129.4(PNPO):c.336C>T (p.Asn112=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001393067]|not provided [RCV000871261] Chr17:47944688 [GRCh38]
Chr17:46022054 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.72C>T (p.His24=) single nucleotide variant not provided [RCV000869490] Chr17:47941747 [GRCh38]
Chr17:46019113 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.651G>A (p.Glu217=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001473696]|not provided [RCV000972011] Chr17:47946647 [GRCh38]
Chr17:46024013 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.364-4C>A single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001467636]|not provided [RCV000944764] Chr17:47945555 [GRCh38]
Chr17:46022921 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.413G>A (p.Arg138His) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001037490]|not provided [RCV001547187] Chr17:47945608 [GRCh38]
Chr17:46022974 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.4A>G (p.Thr2Ala) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001060054] Chr17:47941679 [GRCh38]
Chr17:46019045 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.431G>C (p.Gly144Ala) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001066154]|not provided [RCV001552826] Chr17:47945874 [GRCh38]
Chr17:46023240 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.59G>T (p.Gly20Val) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001066236] Chr17:47941734 [GRCh38]
Chr17:46019100 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.527C>G (p.Ser176Cys) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001066788] Chr17:47945970 [GRCh38]
Chr17:46023336 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.434C>T (p.Pro145Leu) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001062493] Chr17:47945877 [GRCh38]
Chr17:46023243 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.189T>C (p.Ala63=) single nucleotide variant not provided [RCV000923455] Chr17:47943356 [GRCh38]
Chr17:46020722 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.617+3G>A single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000768285] Chr17:47946396 [GRCh38]
Chr17:46023762 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.657G>A (p.Trp219Ter) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000815032] Chr17:47946653 [GRCh38]
Chr17:46024019 [GRCh37]
Chr17:17q21.32
likely pathogenic
NM_018129.4(PNPO):c.11G>C (p.Trp4Ser) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000795915] Chr17:47941686 [GRCh38]
Chr17:46019052 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.364-36C>T single nucleotide variant not provided [RCV000829751] Chr17:47945523 [GRCh38]
Chr17:46022889 [GRCh37]
Chr17:17q21.32
benign
NM_018129.4(PNPO):c.138+143C>T single nucleotide variant not provided [RCV000826727] Chr17:47941956 [GRCh38]
Chr17:46019322 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.546+155G>T single nucleotide variant not provided [RCV000832019] Chr17:47946144 [GRCh38]
Chr17:46023510 [GRCh37]
Chr17:17q21.32
benign
NM_018129.4(PNPO):c.541C>T (p.Arg181Trp) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000808160] Chr17:47945984 [GRCh38]
Chr17:46023350 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.363+249G>A single nucleotide variant not provided [RCV000826725] Chr17:47944964 [GRCh38]
Chr17:46022330 [GRCh37]
Chr17:17q21.32
benign
NM_018129.4(PNPO):c.418-67G>A single nucleotide variant not provided [RCV000830091] Chr17:47945794 [GRCh38]
Chr17:46023160 [GRCh37]
Chr17:17q21.32
benign
NM_018129.4(PNPO):c.139-310G>A single nucleotide variant not provided [RCV000829073] Chr17:47942996 [GRCh38]
Chr17:46020362 [GRCh37]
Chr17:17q21.32
benign
NM_018129.4(PNPO):c.364-139T>C single nucleotide variant not provided [RCV000837106] Chr17:47945420 [GRCh38]
Chr17:46022786 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.264-129C>T single nucleotide variant not provided [RCV000829645] Chr17:47944487 [GRCh38]
Chr17:46021853 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.73C>T (p.Leu25=) single nucleotide variant not provided [RCV000841636] Chr17:47941748 [GRCh38]
Chr17:46019114 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.484C>T (p.Pro162Ser) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001208322] Chr17:47945927 [GRCh38]
Chr17:46023293 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.736A>G (p.Met246Val) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001206884] Chr17:47946732 [GRCh38]
Chr17:46024098 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.323G>A (p.Arg108His) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001241155] Chr17:47944675 [GRCh38]
Chr17:46022041 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.*1190A>G single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001127849] Chr17:47947972 [GRCh38]
Chr17:46025338 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.618-4A>G single nucleotide variant not provided [RCV001551782] Chr17:47946610 [GRCh38]
Chr17:46023976 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.*293G>C single nucleotide variant not provided [RCV001558569] Chr17:47947075 [GRCh38]
Chr17:46024441 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.411C>T (p.Asn137=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV000932436] Chr17:47945606 [GRCh38]
Chr17:46022972 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.138+9G>A single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001482683]|not provided [RCV000862994] Chr17:47941822 [GRCh38]
Chr17:46019188 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.*1803C>A single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001122078] Chr17:47948585 [GRCh38]
Chr17:46025951 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.205delinsTTTCCCCT (p.Ala69fs) indel Pyridoxal phosphate-responsive seizures [RCV001243020] Chr17:47943372 [GRCh38]
Chr17:46020738 [GRCh37]
Chr17:17q21.32
pathogenic
NM_018129.4(PNPO):c.106C>T (p.Pro36Ser) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001208787] Chr17:47941781 [GRCh38]
Chr17:46019147 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.*729T>G single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001124763] Chr17:47947511 [GRCh38]
Chr17:46024877 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.734C>T (p.Pro245Leu) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001224895] Chr17:47946730 [GRCh38]
Chr17:46024096 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.679C>T (p.His227Tyr) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001228196] Chr17:47946675 [GRCh38]
Chr17:46024041 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.*2291G>A single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001124857] Chr17:47949073 [GRCh38]
Chr17:46026439 [GRCh37]
Chr17:17q21.32
benign
NM_018129.4(PNPO):c.*756T>C single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001125747] Chr17:47947538 [GRCh38]
Chr17:46024904 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.*877G>T single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001125749] Chr17:47947659 [GRCh38]
Chr17:46025025 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.*643C>T single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001124762] Chr17:47947425 [GRCh38]
Chr17:46024791 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.-23G>A single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001125667] Chr17:47941653 [GRCh38]
Chr17:46019019 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.*818C>T single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001125748] Chr17:47947600 [GRCh38]
Chr17:46024966 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.*84A>T single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001121985] Chr17:47946866 [GRCh38]
Chr17:46024232 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.59G>C (p.Gly20Ala) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001127769] Chr17:47941734 [GRCh38]
Chr17:46019100 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.442A>C (p.Lys148Gln) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001038395] Chr17:47945885 [GRCh38]
Chr17:46023251 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.62A>T (p.Tyr21Phe) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001038899] Chr17:47941737 [GRCh38]
Chr17:46019103 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.18G>A (p.Arg6=) single nucleotide variant not provided [RCV001531271] Chr17:47941693 [GRCh38]
Chr17:46019059 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.*341T>C single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001124761] Chr17:47947123 [GRCh38]
Chr17:46024489 [GRCh37]
Chr17:17q21.32
benign
NM_018129.4(PNPO):c.*2191A>G single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001124856] Chr17:47948973 [GRCh38]
Chr17:46026339 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.549T>C (p.Tyr183=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001121984] Chr17:47946325 [GRCh38]
Chr17:46023691 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.*141C>T single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001121986] Chr17:47946923 [GRCh38]
Chr17:46024289 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.319T>G (p.Phe107Val) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001050595] Chr17:47944671 [GRCh38]
Chr17:46022037 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.*1965C>T single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001122079] Chr17:47948747 [GRCh38]
Chr17:46026113 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.284G>A (p.Arg95His) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001053333] Chr17:47944636 [GRCh38]
Chr17:46022002 [GRCh37]
Chr17:17q21.32
pathogenic
NM_018129.4(PNPO):c.*1513G>T single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001127850] Chr17:47948295 [GRCh38]
Chr17:46025661 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.748G>A (p.Gly250Arg) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001065054] Chr17:47946744 [GRCh38]
Chr17:46024110 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.547T>G (p.Tyr183Asp) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001068313] Chr17:47946323 [GRCh38]
Chr17:46023689 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.184T>C (p.Phe62Leu) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001253689] Chr17:47943351 [GRCh38]
Chr17:46020717 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.720T>G (p.Asp240Glu) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001305108] Chr17:47946716 [GRCh38]
Chr17:46024082 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.217C>T (p.Pro73Ser) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001305231] Chr17:47943384 [GRCh38]
Chr17:46020750 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.269G>A (p.Gly90Glu) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001352262] Chr17:47944621 [GRCh38]
Chr17:46021987 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.722C>A (p.Ser241Tyr) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001305983] Chr17:47946718 [GRCh38]
Chr17:46024084 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.257G>A (p.Cys86Tyr) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001306228] Chr17:47943424 [GRCh38]
Chr17:46020790 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.66C>T (p.Leu22=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001414687] Chr17:47941741 [GRCh38]
Chr17:46019107 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.573G>A (p.Leu191=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001396590] Chr17:47946349 [GRCh38]
Chr17:46023715 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.267T>C (p.Asp89=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001422768] Chr17:47944619 [GRCh38]
Chr17:46021985 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.482G>A (p.Arg161His) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001368622] Chr17:47945925 [GRCh38]
Chr17:46023291 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.359A>C (p.Glu120Ala) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001348204] Chr17:47944711 [GRCh38]
Chr17:46022077 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.283C>A (p.Arg95Ser) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001349412] Chr17:47944635 [GRCh38]
Chr17:46022001 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.139G>A (p.Ala47Thr) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001362669] Chr17:47943306 [GRCh38]
Chr17:46020672 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.110T>C (p.Met37Thr) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001322274] Chr17:47941785 [GRCh38]
Chr17:46019151 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.643G>T (p.Val215Leu) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001373261] Chr17:47946639 [GRCh38]
Chr17:46024005 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.100C>T (p.Leu34=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001396066] Chr17:47941775 [GRCh38]
Chr17:46019141 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.140C>T (p.Ala47Val) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001365765] Chr17:47943307 [GRCh38]
Chr17:46020673 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_018129.4(PNPO):c.402G>A (p.Glu134=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001496377] Chr17:47945597 [GRCh38]
Chr17:46022963 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.534C>T (p.Ile178=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001486858] Chr17:47945977 [GRCh38]
Chr17:46023343 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.438G>A (p.Val146=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001474563] Chr17:47945881 [GRCh38]
Chr17:46023247 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.342G>A (p.Glu114=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001493158] Chr17:47944694 [GRCh38]
Chr17:46022060 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.156T>C (p.His52=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001432439] Chr17:47943323 [GRCh38]
Chr17:46020689 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.139-10C>T single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001405806] Chr17:47943296 [GRCh38]
Chr17:46020662 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.546+8G>A single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001408855] Chr17:47945997 [GRCh38]
Chr17:46023363 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.618-10C>G single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001439278] Chr17:47946604 [GRCh38]
Chr17:46023970 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.693C>A (p.Val231=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001473412] Chr17:47946689 [GRCh38]
Chr17:46024055 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.453G>A (p.Glu151=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001450985] Chr17:47945896 [GRCh38]
Chr17:46023262 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.507T>C (p.Ala169=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001454271] Chr17:47945950 [GRCh38]
Chr17:46023316 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.420G>T (p.Val140=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001495692] Chr17:47945863 [GRCh38]
Chr17:46023229 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.282T>C (p.Ala94=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001483205] Chr17:47944634 [GRCh38]
Chr17:46022000 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.747C>T (p.Arg249=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001497563] Chr17:47946743 [GRCh38]
Chr17:46024109 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.418-9C>T single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001418851] Chr17:47945852 [GRCh38]
Chr17:46023218 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.297G>A (p.Leu99=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001426272] Chr17:47944649 [GRCh38]
Chr17:46022015 [GRCh37]
Chr17:17q21.32
likely benign
NM_018129.4(PNPO):c.606G>A (p.Lys202=) single nucleotide variant Pyridoxal phosphate-responsive seizures [RCV001399097] Chr17:47946382 [GRCh38]
Chr17:46023748 [GRCh37]
Chr17:17q21.32
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30260 AgrOrtholog
COSMIC PNPO COSMIC
Ensembl Genes ENSG00000108439 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000225573 UniProtKB/Swiss-Prot
  ENSP00000399960 UniProtKB/Swiss-Prot
  ENSP00000462345 UniProtKB/Swiss-Prot
  ENSP00000463919 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000463972 UniProtKB/TrEMBL
  ENSP00000463994 UniProtKB/Swiss-Prot
  ENSP00000492965 UniProtKB/TrEMBL
  ENSP00000493219 UniProtKB/TrEMBL
  ENSP00000493224 UniProtKB/Swiss-Prot
  ENSP00000493302 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000493348 UniProtKB/TrEMBL
  ENSP00000493349 UniProtKB/TrEMBL
Ensembl Transcript ENST00000225573 UniProtKB/Swiss-Prot
  ENST00000434554 UniProtKB/Swiss-Prot
  ENST00000582171 UniProtKB/Swiss-Prot
  ENST00000583599 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000584061 UniProtKB/TrEMBL
  ENST00000585320 UniProtKB/Swiss-Prot
  ENST00000641323 UniProtKB/TrEMBL
  ENST00000641511 UniProtKB/TrEMBL
  ENST00000641703 UniProtKB/TrEMBL
  ENST00000641709 UniProtKB/TrEMBL
  ENST00000641856 UniProtKB/Swiss-Prot
  ENST00000642017 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.110.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000108439 GTEx
HGNC ID HGNC:30260 ENTREZGENE
Human Proteome Map PNPO Human Proteome Map
InterPro Pyridox_Oxase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pyridox_Oxase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pyridox_Oxase_put UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pyridoxamine_oxidase_dimer_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Split_barrel_FMN-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55163 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 55163 ENTREZGENE
OMIM 603287 OMIM
  610090 OMIM
PANTHER PTHR10851 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PNP_phzG_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Putative_PNPOx UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134915565 PharmGKB
PIRSF Pyd_amn-ph_oxd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PYRIDOX_OXIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs pdxH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A286YF16_HUMAN UniProtKB/TrEMBL
  A0A286YF38_HUMAN UniProtKB/TrEMBL
  A0A286YFA1_HUMAN UniProtKB/TrEMBL
  A0A286YFL3_HUMAN UniProtKB/TrEMBL
  J3QQV6_HUMAN UniProtKB/TrEMBL
  J3QQZ9_HUMAN UniProtKB/TrEMBL
  PNPO_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  V9HW45 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B4E0V0 UniProtKB/Swiss-Prot
  B4E152 UniProtKB/Swiss-Prot
  B4E1D7 UniProtKB/Swiss-Prot
  D3DTT9 UniProtKB/Swiss-Prot