XYLT2 (xylosyltransferase 2) - Rat Genome Database

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Gene: XYLT2 (xylosyltransferase 2) Homo sapiens
Analyze
Symbol: XYLT2
Name: xylosyltransferase 2
RGD ID: 731564
HGNC Page HGNC
Description: Enables magnesium ion binding activity; manganese ion binding activity; and protein xylosyltransferase activity. Involved in chondroitin sulfate proteoglycan biosynthetic process and heparan sulfate proteoglycan biosynthetic process. Located in extracellular space. Implicated in pseudoxanthoma elasticum.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: peptide O-xylosyltransferase 1; PXYLT2; SOS; UDP-D-xylose:proteoglycan core protein beta-D-xylosyltransferase; XT-II; XT2; xylosyltransferase II; xylT-II
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
GRCh381750,346,126 - 50,361,185 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1750,346,126 - 50,363,138 (+)EnsemblGRCh38hg38GRCh38
GRCh371748,423,487 - 48,438,546 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361745,778,392 - 45,793,511 (+)NCBINCBI36hg18NCBI36
Build 341745,778,391 - 45,793,511NCBI
Celera1744,884,666 - 44,899,786 (+)NCBI
Cytogenetic Map17q21.33NCBI
HuRef1743,791,832 - 43,806,359 (+)NCBIHuRef
CHM1_11748,487,619 - 48,502,357 (+)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

Cellular Component

Molecular Function

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

Human Phenotype
Abnormal antihelix morphology  (IAGP)
Abnormal eyebrow morphology  (IAGP)
Abnormal intervertebral disk morphology  (IAGP)
Accelerated atherosclerosis  (IAGP)
Amblyopia  (IAGP)
Angina pectoris  (IAGP)
Angioid streaks of the fundus  (IAGP)
Aplasia/Hypoplasia of the lens  (IAGP)
Atrial septal defect  (IAGP)
Autosomal recessive inheritance  (IAGP)
Cataract  (IAGP)
Choroidal neovascularization  (IAGP)
Civatte bodies  (IAGP)
Congestive heart failure  (IAGP)
Coronary artery atherosclerosis  (IAGP)
Cutis laxa  (IAGP)
Decreased body weight  (IAGP)
Decreased DLCO  (IAGP)
Disproportionate short-trunk short stature  (IAGP)
Facial hypotonia  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Hyperextensible skin  (IAGP)
Hypertelorism  (IAGP)
Intellectual disability  (IAGP)
Intermittent claudication  (IAGP)
Iris hypopigmentation  (IAGP)
Joint hyperflexibility  (IAGP)
Long fingers  (IAGP)
Long philtrum  (IAGP)
Long toe  (IAGP)
Low posterior hairline  (IAGP)
Low-set ears  (IAGP)
Macular degeneration  (IAGP)
Microphthalmia  (IAGP)
Mitral stenosis  (IAGP)
Mitral valve prolapse  (IAGP)
Muscle weakness  (IAGP)
Myopia  (IAGP)
Nystagmus  (IAGP)
Optic disc drusen  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Pes planus  (IAGP)
Platyspondyly  (IAGP)
Posteriorly rotated ears  (IAGP)
Preauricular pit  (IAGP)
Reduced visual acuity  (IAGP)
Renovascular hypertension  (IAGP)
Restrictive cardiomyopathy  (IAGP)
Retinal detachment  (IAGP)
Retinal hemorrhage  (IAGP)
Retinal peau d'orange  (IAGP)
Sensorineural hearing impairment  (IAGP)
Shield chest  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Stroke  (IAGP)
Thickened helices  (IAGP)
Thin vermilion border  (IAGP)
Thoracic kyphosis  (IAGP)
Unilateral cryptorchidism  (IAGP)
Ventricular septal defect  (IAGP)
Vertebral compression fracture  (IAGP)
Visual loss  (IAGP)
Weak pulse  (IAGP)
Webbed neck  (IAGP)
White oral mucosal macule  (IAGP)
Yellow papule  (IAGP)
References

Additional References at PubMed
PMID:8889548   PMID:9588955   PMID:10383739   PMID:11087729   PMID:11814476   PMID:12477932   PMID:12975309   PMID:15489334   PMID:16164625   PMID:16569644   PMID:17003309   PMID:17189265  
PMID:17194707   PMID:18023272   PMID:18763033   PMID:18789912   PMID:19014925   PMID:19197251   PMID:19289103   PMID:19389916   PMID:20301292   PMID:21873635   PMID:22886070   PMID:25704086  
PMID:25748573   PMID:26027496   PMID:26186194   PMID:26760575   PMID:26987875   PMID:27173435   PMID:27871115   PMID:28077445   PMID:28514442   PMID:29136277   PMID:30496831   PMID:31677793  
PMID:31973761   PMID:32694731   PMID:33609631   PMID:33961781  


Genomics

Comparative Map Data
XYLT2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381750,346,126 - 50,361,185 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1750,346,126 - 50,363,138 (+)EnsemblGRCh38hg38GRCh38
GRCh371748,423,487 - 48,438,546 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361745,778,392 - 45,793,511 (+)NCBINCBI36hg18NCBI36
Build 341745,778,391 - 45,793,511NCBI
Celera1744,884,666 - 44,899,786 (+)NCBI
Cytogenetic Map17q21.33NCBI
HuRef1743,791,832 - 43,806,359 (+)NCBIHuRef
CHM1_11748,487,619 - 48,502,357 (+)NCBICHM1_1
Xylt2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391194,554,671 - 94,568,341 (-)NCBIGRCm39mm39
GRCm39 Ensembl1194,554,677 - 94,568,341 (-)Ensembl
GRCm381194,663,845 - 94,677,518 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1194,663,851 - 94,677,515 (-)EnsemblGRCm38mm10GRCm38
MGSCv371194,525,161 - 94,538,807 (-)NCBIGRCm37mm9NCBIm37
MGSCv361194,479,941 - 94,486,630 (-)NCBImm8
Celera11104,282,927 - 104,296,600 (-)NCBICelera
Cytogenetic Map11DNCBI
Xylt2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21079,605,910 - 79,619,482 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1079,606,007 - 79,619,391 (-)Ensembl
Rnor_6.01082,386,003 - 82,399,485 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1082,386,005 - 82,399,485 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01082,204,620 - 82,218,102 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41083,297,806 - 83,311,288 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11083,312,272 - 83,325,657 (-)NCBI
Celera1078,393,292 - 78,406,774 (-)NCBICelera
Cytogenetic Map10q26NCBI
Xylt2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545111,344,780 - 11,354,489 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545111,347,254 - 11,354,489 (-)NCBIChiLan1.0ChiLan1.0
XYLT2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11749,314,397 - 49,329,729 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1749,315,250 - 49,331,654 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01744,440,428 - 44,455,530 (+)NCBIMhudiblu_PPA_v0panPan3
XYLT2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1926,316,812 - 26,329,333 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl926,316,774 - 26,329,511 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha925,709,840 - 25,722,329 (+)NCBI
ROS_Cfam_1.0927,111,261 - 27,123,755 (+)NCBI
ROS_Cfam_1.0 Ensembl927,111,251 - 27,124,656 (+)Ensembl
UMICH_Zoey_3.1925,879,022 - 25,891,537 (+)NCBI
UNSW_CanFamBas_1.0926,137,674 - 26,150,182 (+)NCBI
UU_Cfam_GSD_1.0926,267,695 - 26,280,219 (+)NCBI
Xylt2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560225,734,721 - 25,747,482 (+)NCBI
SpeTri2.0NW_00493649011,327,654 - 11,340,417 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
XYLT2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1226,640,899 - 26,663,520 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11226,640,802 - 26,656,809 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21226,625,115 - 26,633,292 (-)NCBISscrofa10.2Sscrofa10.2susScr3
XYLT2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11642,969,198 - 42,984,542 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1642,970,041 - 42,984,438 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607713,684,941 - 13,700,289 (-)NCBIVero_WHO_p1.0
Xylt2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247956,285,939 - 6,297,874 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
RH69808  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,422,088 - 48,422,244UniSTSGRCh37
Build 361745,777,087 - 45,777,243RGDNCBI36
Celera1744,883,361 - 44,883,517RGD
Cytogenetic Map17q21.33UniSTS
HuRef1743,790,550 - 43,790,706UniSTS
GeneMap99-GB4 RH Map17347.15UniSTS
NCBI RH Map17604.8UniSTS
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
D16S325  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map10q11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3q13.32UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map2p13-p12UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map1p36.3-p34.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19q13.4UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
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Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR18Ahsa-miR-18a-5pTarbaseexternal_infoSequencingPOSITIVE

Predicted Target Of
Summary Value
Count of predictions:2690
Count of miRNA genes:959
Interacting mature miRNAs:1185
Transcripts:ENST00000017003, ENST00000376550, ENST00000507602, ENST00000509778, ENST00000511654, ENST00000571021, ENST00000574840
Prediction methods: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 2070 1393 1252 242 1046 109 3245 845 1620 301 1434 1477 150 1 810 1852 4 1
Low 369 1595 474 382 902 356 1112 1352 2114 118 26 136 25 394 936 2 1
Below cutoff 3 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_110010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005257572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC015909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ277442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM726479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ018370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000017003   ⟹   ENSP00000017003
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1750,346,126 - 50,361,185 (+)Ensembl
RefSeq Acc Id: ENST00000376550   ⟹   ENSP00000365733
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1750,346,136 - 50,361,151 (+)Ensembl
RefSeq Acc Id: ENST00000507602   ⟹   ENSP00000426501
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1750,346,135 - 50,363,138 (+)Ensembl
RefSeq Acc Id: ENST00000509778   ⟹   ENSP00000425511
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1750,346,131 - 50,353,674 (+)Ensembl
RefSeq Acc Id: ENST00000511654   ⟹   ENSP00000428350
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1750,356,184 - 50,358,317 (+)Ensembl
RefSeq Acc Id: ENST00000571021
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1750,358,978 - 50,361,151 (+)Ensembl
RefSeq Acc Id: ENST00000574840   ⟹   ENSP00000460517
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1750,357,166 - 50,358,066 (+)Ensembl
RefSeq Acc Id: NM_022167   ⟹   NP_071450
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,346,126 - 50,361,185 (+)NCBI
GRCh371748,423,393 - 48,440,512 (+)NCBI
Build 361745,778,392 - 45,793,511 (+)NCBI Archive
HuRef1743,791,832 - 43,806,393 (+)NCBI
CHM1_11748,487,619 - 48,502,391 (+)NCBI
Sequence:
RefSeq Acc Id: NR_110010
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,346,126 - 50,361,185 (+)NCBI
HuRef1743,791,832 - 43,806,393 (+)NCBI
CHM1_11748,487,619 - 48,502,391 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005257572   ⟹   XP_005257629
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,346,377 - 50,361,185 (+)NCBI
GRCh371748,423,393 - 48,440,512 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047436522   ⟹   XP_047292478
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,346,950 - 50,361,185 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_071450   ⟸   NM_022167
- UniProtKB: Q9H1B5 (UniProtKB/Swiss-Prot),   B4DT06 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005257629   ⟸   XM_005257572
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000017003   ⟸   ENST00000017003
RefSeq Acc Id: ENSP00000426501   ⟸   ENST00000507602
RefSeq Acc Id: ENSP00000365733   ⟸   ENST00000376550
RefSeq Acc Id: ENSP00000425511   ⟸   ENST00000509778
RefSeq Acc Id: ENSP00000460517   ⟸   ENST00000574840
RefSeq Acc Id: ENSP00000428350   ⟸   ENST00000511654
RefSeq Acc Id: XP_047292478   ⟸   XM_047436522
- Peptide Label: isoform X2
Protein Domains
Xylo_C

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H1B5-F1-model_v2 AlphaFold Q9H1B5 1-865 view protein structure

Promoters
RGD ID:6794758
Promoter ID:HG_KWN:26568
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_022167,   UC010DBO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361745,777,696 - 45,778,672 (+)MPROMDB
RGD ID:7235641
Promoter ID:EPDNEW_H23565
Type:initiation region
Name:XYLT2_1
Description:xylosyltransferase 2
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
GRCh381750,346,126 - 50,346,186EPDNEW

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_022167.4(XYLT2):c.1792GAC[1] (p.Asp599del) microsatellite not provided [RCV000722404] Chr17:50357103..50357105 [GRCh38]
Chr17:48434464..48434466 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.2402C>G (p.Thr801Arg) single nucleotide variant Pseudoxanthoma elasticum, modifier of severity of [RCV000002642]|Spondylo-ocular syndrome [RCV000989952]|not provided [RCV001642196] Chr17:50360095 [GRCh38]
Chr17:48437456 [GRCh37]
Chr17:17q21.33
risk factor|benign
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 17q21.32-22(chr17:49137864-52147810)x1 copy number loss See cases [RCV000053432] Chr17:49137864..52147810 [GRCh38]
Chr17:47215226..50225170 [GRCh37]
Chr17:44570225..47580169 [NCBI36]
Chr17:17q21.32-22
pathogenic
GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1 copy number loss See cases [RCV000053433] Chr17:49974533..56807609 [GRCh38]
Chr17:48051897..54884970 [GRCh37]
Chr17:45406896..52239969 [NCBI36]
Chr17:17q21.33-22
pathogenic
NM_022167.4(XYLT2):c.1581C>A (p.Pro527=) single nucleotide variant not provided [RCV002166784] Chr17:50356609 [GRCh38]
Chr17:48433970 [GRCh37]
Chr17:17q21.33
benign
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_022167.4(XYLT2):c.749G>A (p.Arg250His) single nucleotide variant Spondylo-ocular syndrome [RCV001332457] Chr17:50354528 [GRCh38]
Chr17:48431889 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.692dup (p.Val232fs) duplication Inborn genetic diseases [RCV000624217]|Spondylo-ocular syndrome [RCV000190243] Chr17:50354465..50354466 [GRCh38]
Chr17:48431826..48431827 [GRCh37]
Chr17:17q21.33
pathogenic
NM_022167.4(XYLT2):c.520del (p.Ala174fs) deletion Spondylo-ocular syndrome [RCV000190244] Chr17:50354013 [GRCh38]
Chr17:48431374 [GRCh37]
Chr17:17q21.33
pathogenic
NM_022167.4(XYLT2):c.1687C>T (p.Arg563Cys) single nucleotide variant Inborn genetic diseases [RCV000623115] Chr17:50356715 [GRCh38]
Chr17:48434076 [GRCh37]
Chr17:17q21.33
likely pathogenic|uncertain significance
NM_022167.4(XYLT2):c.2312A>G (p.Asn771Ser) single nucleotide variant not provided [RCV000435769] Chr17:50360005 [GRCh38]
Chr17:48437366 [GRCh37]
Chr17:17q21.33
conflicting interpretations of pathogenicity|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_022167.4(XYLT2):c.611G>A (p.Arg204Gln) single nucleotide variant not provided [RCV000498160] Chr17:50354105 [GRCh38]
Chr17:48431466 [GRCh37]
Chr17:17q21.33
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
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_022167.4(XYLT2):c.509T>C (p.Leu170Pro) single nucleotide variant not provided [RCV000512992] Chr17:50354003 [GRCh38]
Chr17:48431364 [GRCh37]
Chr17:17q21.33
uncertain significance
GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1 copy number loss not provided [RCV000513510] Chr17:46481089..51396368 [GRCh37]
Chr17:17q21.32-22
likely pathogenic
NM_022167.4(XYLT2):c.1159C>T (p.Arg387Trp) single nucleotide variant not provided [RCV000658790] Chr17:50355851 [GRCh38]
Chr17:48433212 [GRCh37]
Chr17:17q21.33
pathogenic|uncertain significance
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_022167.4(XYLT2):c.1941+67G>A single nucleotide variant not provided [RCV001540241] Chr17:50357319 [GRCh38]
Chr17:48434680 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.1569T>C (p.Tyr523=) single nucleotide variant not provided [RCV001609209] Chr17:50356597 [GRCh38]
Chr17:48433958 [GRCh37]
Chr17:17q21.33
benign
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
NM_022167.4(XYLT2):c.2548G>A (p.Asp850Asn) single nucleotide variant Spondylo-ocular syndrome [RCV000735866] Chr17:50360241 [GRCh38]
Chr17:48437602 [GRCh37]
Chr17:17q21.33
likely pathogenic
Single allele single nucleotide variant not provided [RCV001611810] Chr17:50345953 [GRCh38]
Chr17:48423314 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.177G>A (p.Glu59=) single nucleotide variant not provided [RCV001644137] Chr17:50353671 [GRCh38]
Chr17:48431032 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.135+10C>A single nucleotide variant not provided [RCV000880701] Chr17:50346285 [GRCh38]
Chr17:48423646 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.2424C>T (p.Leu808=) single nucleotide variant not provided [RCV000923048] Chr17:50360117 [GRCh38]
Chr17:48437478 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.2022C>T (p.Ala674=) single nucleotide variant not provided [RCV000880233] Chr17:50358287 [GRCh38]
Chr17:48435648 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.1619C>T (p.Thr540Ile) single nucleotide variant not provided [RCV000903806] Chr17:50356647 [GRCh38]
Chr17:48434008 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.1833G>A (p.Gln611=) single nucleotide variant not provided [RCV000968744] Chr17:50357144 [GRCh38]
Chr17:48434505 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.2061A>G (p.Thr687=) single nucleotide variant not provided [RCV000968745] Chr17:50358326 [GRCh38]
Chr17:48435687 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.1551C>A (p.Ile517=) single nucleotide variant not provided [RCV000926238] Chr17:50356579 [GRCh38]
Chr17:48433940 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.922C>T (p.Leu308=) single nucleotide variant not provided [RCV000880509] Chr17:50354971 [GRCh38]
Chr17:48432332 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.1045C>A (p.Arg349=) single nucleotide variant not provided [RCV000904005] Chr17:50355538 [GRCh38]
Chr17:48432899 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.1821G>A (p.Thr607=) single nucleotide variant not provided [RCV000907916] Chr17:50357132 [GRCh38]
Chr17:48434493 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.322C>T (p.Arg108Trp) single nucleotide variant not provided [RCV000900231] Chr17:50353816 [GRCh38]
Chr17:48431177 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.771C>T (p.His257=) single nucleotide variant not provided [RCV000894121] Chr17:50354550 [GRCh38]
Chr17:48431911 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.2023G>A (p.Val675Met) single nucleotide variant not provided [RCV000965388] Chr17:50358288 [GRCh38]
Chr17:48435649 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.2391C>T (p.Ala797=) single nucleotide variant not provided [RCV000880155] Chr17:50360084 [GRCh38]
Chr17:48437445 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.1845G>C (p.Gln615His) single nucleotide variant not provided [RCV000959414] Chr17:50357156 [GRCh38]
Chr17:48434517 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.1907G>A (p.Arg636His) single nucleotide variant not provided [RCV000959415] Chr17:50357218 [GRCh38]
Chr17:48434579 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.2010C>T (p.Asp670=) single nucleotide variant not provided [RCV000921486] Chr17:50358275 [GRCh38]
Chr17:48435636 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.1088+9G>T single nucleotide variant not provided [RCV000939725] Chr17:50355590 [GRCh38]
Chr17:48432951 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.1239G>A (p.Val413=) single nucleotide variant not provided [RCV000916889] Chr17:50355931 [GRCh38]
Chr17:48433292 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.2463C>T (p.Ser821=) single nucleotide variant not provided [RCV000895451] Chr17:50360156 [GRCh38]
Chr17:48437517 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.341C>T (p.Pro114Leu) single nucleotide variant Pseudoxanthoma elasticum [RCV000791081] Chr17:50353835 [GRCh38]
Chr17:48431196 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.1584dup (p.Gly529fs) duplication Spondylo-ocular syndrome [RCV000991400] Chr17:50356605..50356606 [GRCh38]
Chr17:48433966..48433967 [GRCh37]
Chr17:17q21.33
likely pathogenic
NM_022167.4(XYLT2):c.1483-98C>T single nucleotide variant not provided [RCV001595225] Chr17:50356413 [GRCh38]
Chr17:48433774 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.804+98_804+99insA insertion not provided [RCV001652932] Chr17:50354681..50354682 [GRCh38]
Chr17:48432042..48432043 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.2276-37G>A single nucleotide variant not provided [RCV001713858] Chr17:50359932 [GRCh38]
Chr17:48437293 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.914G>C (p.Arg305Thr) single nucleotide variant not provided [RCV001716348] Chr17:50354963 [GRCh38]
Chr17:48432324 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.135+98G>C single nucleotide variant not provided [RCV001657223] Chr17:50346373 [GRCh38]
Chr17:48423734 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.1089-61G>A single nucleotide variant not provided [RCV001657297] Chr17:50355720 [GRCh38]
Chr17:48433081 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.504C>T (p.Asp168=) single nucleotide variant not provided [RCV000918229] Chr17:50353998 [GRCh38]
Chr17:48431359 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.2048A>G (p.Asn683Ser) single nucleotide variant not provided [RCV000907791] Chr17:50358313 [GRCh38]
Chr17:48435674 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.1581C>T (p.Pro527=) single nucleotide variant not provided [RCV000933192] Chr17:50356609 [GRCh38]
Chr17:48433970 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.1626C>T (p.Asp542=) single nucleotide variant not provided [RCV000885319] Chr17:50356654 [GRCh38]
Chr17:48434015 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.805-7C>G single nucleotide variant not provided [RCV000923118] Chr17:50354847 [GRCh38]
Chr17:48432208 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.359G>A (p.Arg120His) single nucleotide variant not provided [RCV000953044] Chr17:50353853 [GRCh38]
Chr17:48431214 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.2370G>A (p.Pro790=) single nucleotide variant not provided [RCV000933302] Chr17:50360063 [GRCh38]
Chr17:48437424 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.1021C>T (p.Leu341=) single nucleotide variant not provided [RCV000932177] Chr17:50355514 [GRCh38]
Chr17:48432875 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.1302C>T (p.Ala434=) single nucleotide variant not provided [RCV000943536] Chr17:50355994 [GRCh38]
Chr17:48433355 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.1191C>T (p.Gly397=) single nucleotide variant not provided [RCV000971420] Chr17:50355883 [GRCh38]
Chr17:48433244 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.1446del (p.Asn483fs) deletion not provided [RCV001070129] Chr17:50356221 [GRCh38]
Chr17:48433582 [GRCh37]
Chr17:17q21.33
pathogenic
NM_022167.4(XYLT2):c.861G>A (p.Val287=) single nucleotide variant not provided [RCV000913882] Chr17:50354910 [GRCh38]
Chr17:48432271 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.1590G>A (p.Thr530=) single nucleotide variant not provided [RCV000891064] Chr17:50356618 [GRCh38]
Chr17:48433979 [GRCh37]
Chr17:17q21.33
likely benign
Single allele single nucleotide variant not provided [RCV001721622] Chr17:50346057 [GRCh38]
Chr17:48423418 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.136-27A>C single nucleotide variant not provided [RCV001671464] Chr17:50353603 [GRCh38]
Chr17:48430964 [GRCh37]
Chr17:17q21.33
benign
Single allele single nucleotide variant not provided [RCV001676921] Chr17:50346069 [GRCh38]
Chr17:48423430 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.342C>T (p.Pro114=) single nucleotide variant not provided [RCV001686991] Chr17:50353836 [GRCh38]
Chr17:48431197 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.1008-113G>C single nucleotide variant not provided [RCV001715258] Chr17:50355388 [GRCh38]
Chr17:48432749 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.804+126A>G single nucleotide variant not provided [RCV001636297] Chr17:50354709 [GRCh38]
Chr17:48432070 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.30G>T (p.Leu10=) single nucleotide variant not provided [RCV001690414] Chr17:50346170 [GRCh38]
Chr17:48423531 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.1482+81A>C single nucleotide variant not provided [RCV001651882] Chr17:50356342 [GRCh38]
Chr17:48433703 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.1942-117A>C single nucleotide variant not provided [RCV001690632] Chr17:50358090 [GRCh38]
Chr17:48435451 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.1938G>A (p.Leu646=) single nucleotide variant not provided [RCV001690922] Chr17:50357249 [GRCh38]
Chr17:48434610 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.1552del (p.Leu518fs) deletion Spondylo-ocular syndrome [RCV001251037] Chr17:50356579 [GRCh38]
Chr17:48433940 [GRCh37]
Chr17:17q21.33
likely pathogenic
NM_022167.4(XYLT2):c.1008-181G>A single nucleotide variant not provided [RCV001538668] Chr17:50355320 [GRCh38]
Chr17:48432681 [GRCh37]
Chr17:17q21.33
benign
Single allele single nucleotide variant not provided [RCV001536480] Chr17:50346057 [GRCh38]
Chr17:48423418 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.1305+29G>C single nucleotide variant not provided [RCV001611515] Chr17:50356026 [GRCh38]
Chr17:48433387 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.1941+126C>T single nucleotide variant not provided [RCV001640986] Chr17:50357378 [GRCh38]
Chr17:48434739 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.166G>A (p.Asp56Asn) single nucleotide variant not provided [RCV002073413]|not specified [RCV001730203] Chr17:50353660 [GRCh38]
Chr17:48431021 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.1708G>A (p.Ala570Thr) single nucleotide variant not provided [RCV002044666] Chr17:50356736 [GRCh38]
Chr17:48434097 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.1859C>T (p.Thr620Met) single nucleotide variant not provided [RCV001969923] Chr17:50357170 [GRCh38]
Chr17:48434531 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.1582C>T (p.Pro528Ser) single nucleotide variant not provided [RCV001874888] Chr17:50356610 [GRCh38]
Chr17:48433971 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.34C>T (p.Arg12Trp) single nucleotide variant not provided [RCV002001647] Chr17:50346174 [GRCh38]
Chr17:48423535 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.2176C>T (p.Pro726Ser) single nucleotide variant not provided [RCV001914619] Chr17:50358441 [GRCh38]
Chr17:48435802 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.2345G>C (p.Ser782Thr) single nucleotide variant not provided [RCV001988038] Chr17:50360038 [GRCh38]
Chr17:48437399 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.1147C>T (p.Arg383Cys) single nucleotide variant not provided [RCV001970595] Chr17:50355839 [GRCh38]
Chr17:48433200 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.728G>A (p.Arg243His) single nucleotide variant not provided [RCV001894226] Chr17:50354507 [GRCh38]
Chr17:48431868 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.2185G>C (p.Val729Leu) single nucleotide variant not provided [RCV001893368] Chr17:50358450 [GRCh38]
Chr17:48435811 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.487G>A (p.Glu163Lys) single nucleotide variant not provided [RCV001871193] Chr17:50353981 [GRCh38]
Chr17:48431342 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.2255G>A (p.Arg752His) single nucleotide variant not provided [RCV002021234] Chr17:50358520 [GRCh38]
Chr17:48435881 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.290G>A (p.Arg97Gln) single nucleotide variant not provided [RCV001911864] Chr17:50353784 [GRCh38]
Chr17:48431145 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.2089G>A (p.Val697Met) single nucleotide variant not provided [RCV001913994] Chr17:50358354 [GRCh38]
Chr17:48435715 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.527C>T (p.Ala176Val) single nucleotide variant not provided [RCV002040458] Chr17:50354021 [GRCh38]
Chr17:48431382 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.2080A>G (p.Thr694Ala) single nucleotide variant not provided [RCV001907937] Chr17:50358345 [GRCh38]
Chr17:48435706 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.761C>T (p.Ala254Val) single nucleotide variant not provided [RCV002041174] Chr17:50354540 [GRCh38]
Chr17:48431901 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.1573A>T (p.Ser525Cys) single nucleotide variant not provided [RCV001968337] Chr17:50356601 [GRCh38]
Chr17:48433962 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.617G>C (p.Cys206Ser) single nucleotide variant not provided [RCV001969427] Chr17:50354111 [GRCh38]
Chr17:48431472 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.1766C>T (p.Pro589Leu) single nucleotide variant not provided [RCV001898492] Chr17:50357077 [GRCh38]
Chr17:48434438 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.1735C>G (p.Pro579Ala) single nucleotide variant not provided [RCV002033824] Chr17:50356763 [GRCh38]
Chr17:48434124 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.1114C>T (p.Arg372Trp) single nucleotide variant not provided [RCV001989064] Chr17:50355806 [GRCh38]
Chr17:48433167 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.496G>A (p.Gly166Ser) single nucleotide variant not provided [RCV001904327] Chr17:50353990 [GRCh38]
Chr17:48431351 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.1354G>A (p.Val452Met) single nucleotide variant not provided [RCV001888759] Chr17:50356133 [GRCh38]
Chr17:48433494 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.62C>T (p.Ala21Val) single nucleotide variant not provided [RCV001878151] Chr17:50346202 [GRCh38]
Chr17:48423563 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.2038C>T (p.Arg680Trp) single nucleotide variant not provided [RCV001881355] Chr17:50358303 [GRCh38]
Chr17:48435664 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.1319C>T (p.Thr440Met) single nucleotide variant not provided [RCV001998714] Chr17:50356098 [GRCh38]
Chr17:48433459 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.2107A>G (p.Ile703Val) single nucleotide variant not provided [RCV001973789] Chr17:50358372 [GRCh38]
Chr17:48435733 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.1841C>T (p.Ala614Val) single nucleotide variant not provided [RCV002035821] Chr17:50357152 [GRCh38]
Chr17:48434513 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.447C>T (p.Gly149=) single nucleotide variant not provided [RCV001996327] Chr17:50353941 [GRCh38]
Chr17:48431302 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.251G>A (p.Arg84His) single nucleotide variant not provided [RCV001878959] Chr17:50353745 [GRCh38]
Chr17:48431106 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.1007+6G>A single nucleotide variant not provided [RCV001901328] Chr17:50355062 [GRCh38]
Chr17:48432423 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.439G>A (p.Val147Met) single nucleotide variant not provided [RCV001935626] Chr17:50353933 [GRCh38]
Chr17:48431294 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.493G>A (p.Val165Met) single nucleotide variant not provided [RCV001952848] Chr17:50353987 [GRCh38]
Chr17:48431348 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.2584G>A (p.Gly862Arg) single nucleotide variant not provided [RCV001975381] Chr17:50360277 [GRCh38]
Chr17:48437638 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.811G>A (p.Asp271Asn) single nucleotide variant not provided [RCV001918085] Chr17:50354860 [GRCh38]
Chr17:48432221 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.299C>G (p.Thr100Ser) single nucleotide variant not provided [RCV001990107] Chr17:50353793 [GRCh38]
Chr17:48431154 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.1178T>C (p.Ile393Thr) single nucleotide variant not provided [RCV001959944] Chr17:50355870 [GRCh38]
Chr17:48433231 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.1132G>A (p.Asp378Asn) single nucleotide variant not provided [RCV001974758] Chr17:50355824 [GRCh38]
Chr17:48433185 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.1089G>A (p.Arg363=) single nucleotide variant not provided [RCV001901212] Chr17:50355781 [GRCh38]
Chr17:48433142 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.289C>T (p.Arg97Trp) single nucleotide variant not provided [RCV001940120] Chr17:50353783 [GRCh38]
Chr17:48431144 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.311G>A (p.Arg104Lys) single nucleotide variant not provided [RCV001940248] Chr17:50353805 [GRCh38]
Chr17:48431166 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.2546C>G (p.Pro849Arg) single nucleotide variant not provided [RCV001995482] Chr17:50360239 [GRCh38]
Chr17:48437600 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.32T>G (p.Val11Gly) single nucleotide variant not provided [RCV001976416] Chr17:50346172 [GRCh38]
Chr17:48423533 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.1726A>G (p.Met576Val) single nucleotide variant not provided [RCV001956810] Chr17:50356754 [GRCh38]
Chr17:48434115 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.869C>T (p.Thr290Met) single nucleotide variant not provided [RCV001994894] Chr17:50354918 [GRCh38]
Chr17:48432279 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.217A>G (p.Ser73Gly) single nucleotide variant not provided [RCV001952573] Chr17:50353711 [GRCh38]
Chr17:48431072 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.1820C>T (p.Thr607Met) single nucleotide variant not provided [RCV001916266] Chr17:50357131 [GRCh38]
Chr17:48434492 [GRCh37]
Chr17:17q21.33
uncertain significance
NM_022167.4(XYLT2):c.1007+20A>T single nucleotide variant not provided [RCV002206949] Chr17:50355076 [GRCh38]
Chr17:48432437 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.1251C>T (p.Asp417=) single nucleotide variant not provided [RCV002189583] Chr17:50355943 [GRCh38]
Chr17:48433304 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.1500C>T (p.Thr500=) single nucleotide variant not provided [RCV002087781] Chr17:50356528 [GRCh38]
Chr17:48433889 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.1089-15C>G single nucleotide variant not provided [RCV002187021] Chr17:50355766 [GRCh38]
Chr17:48433127 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.453C>T (p.Pro151=) single nucleotide variant not provided [RCV002164811] Chr17:50353947 [GRCh38]
Chr17:48431308 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.2547C>T (p.Pro849=) single nucleotide variant not provided [RCV002128467] Chr17:50360240 [GRCh38]
Chr17:48437601 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.1089-14_1089-13insG insertion not provided [RCV002124692] Chr17:50355767..50355768 [GRCh38]
Chr17:48433128..48433129 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.345G>A (p.Pro115=) single nucleotide variant not provided [RCV002167007] Chr17:50353839 [GRCh38]
Chr17:48431200 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.669C>G (p.Ala223=) single nucleotide variant not provided [RCV002126496] Chr17:50354448 [GRCh38]
Chr17:48431809 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.888C>T (p.Thr296=) single nucleotide variant not provided [RCV002091510] Chr17:50354937 [GRCh38]
Chr17:48432298 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.1284A>G (p.Thr428=) single nucleotide variant not provided [RCV002129319] Chr17:50355976 [GRCh38]
Chr17:48433337 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.1404G>A (p.Lys468=) single nucleotide variant not provided [RCV002191749] Chr17:50356183 [GRCh38]
Chr17:48433544 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.129G>C (p.Ala43=) single nucleotide variant not provided [RCV002107523] Chr17:50346269 [GRCh38]
Chr17:48423630 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.1745+7C>A single nucleotide variant not provided [RCV002079790] Chr17:50356780 [GRCh38]
Chr17:48434141 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.1209G>T (p.Val403=) single nucleotide variant not provided [RCV002196349] Chr17:50355901 [GRCh38]
Chr17:48433262 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.1353C>T (p.Leu451=) single nucleotide variant not provided [RCV002197193] Chr17:50356132 [GRCh38]
Chr17:48433493 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.1745+16G>C single nucleotide variant not provided [RCV002071285] Chr17:50356789 [GRCh38]
Chr17:48434150 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.858C>T (p.Asn286=) single nucleotide variant not provided [RCV002171374] Chr17:50354907 [GRCh38]
Chr17:48432268 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.438C>T (p.Ser146=) single nucleotide variant not provided [RCV002108333] Chr17:50353932 [GRCh38]
Chr17:48431293 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.693G>A (p.Pro231=) single nucleotide variant not provided [RCV002212547] Chr17:50354472 [GRCh38]
Chr17:48431833 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.1482+11G>A single nucleotide variant not provided [RCV002133619] Chr17:50356272 [GRCh38]
Chr17:48433633 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.891C>T (p.Ile297=) single nucleotide variant not provided [RCV002194966] Chr17:50354940 [GRCh38]
Chr17:48432301 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.1483-20C>T single nucleotide variant not provided [RCV002122846] Chr17:50356491 [GRCh38]
Chr17:48433852 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.453C>G (p.Pro151=) single nucleotide variant not provided [RCV002137487] Chr17:50353947 [GRCh38]
Chr17:48431308 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.174C>T (p.Gly58=) single nucleotide variant not provided [RCV002156196] Chr17:50353668 [GRCh38]
Chr17:48431029 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.448G>A (p.Ala150Thr) single nucleotide variant not provided [RCV002098758] Chr17:50353942 [GRCh38]
Chr17:48431303 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.1254G>A (p.Pro418=) single nucleotide variant not provided [RCV002102704] Chr17:50355946 [GRCh38]
Chr17:48433307 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.1506C>T (p.Phe502=) single nucleotide variant not provided [RCV002220476] Chr17:50356534 [GRCh38]
Chr17:48433895 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.810C>T (p.Ser270=) single nucleotide variant not provided [RCV002163607] Chr17:50354859 [GRCh38]
Chr17:48432220 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.1253C>T (p.Pro418Leu) single nucleotide variant not provided [RCV002082306] Chr17:50355945 [GRCh38]
Chr17:48433306 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.489G>A (p.Glu163=) single nucleotide variant not provided [RCV002098928] Chr17:50353983 [GRCh38]
Chr17:48431344 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.1089-9T>C single nucleotide variant not provided [RCV002097788] Chr17:50355772 [GRCh38]
Chr17:48433133 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.1518C>T (p.Phe506=) single nucleotide variant not provided [RCV002163062] Chr17:50356546 [GRCh38]
Chr17:48433907 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.1767G>A (p.Pro589=) single nucleotide variant not provided [RCV002177418] Chr17:50357078 [GRCh38]
Chr17:48434439 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.2136G>A (p.Thr712=) single nucleotide variant not provided [RCV002156479] Chr17:50358401 [GRCh38]
Chr17:48435762 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.516A>G (p.Ala172=) single nucleotide variant not provided [RCV002098419] Chr17:50354010 [GRCh38]
Chr17:48431371 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.2276-18C>G single nucleotide variant not provided [RCV002136299] Chr17:50359951 [GRCh38]
Chr17:48437312 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.2004G>A (p.Pro668=) single nucleotide variant not provided [RCV002176470] Chr17:50358269 [GRCh38]
Chr17:48435630 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.1007+14G>A single nucleotide variant not provided [RCV002157172] Chr17:50355070 [GRCh38]
Chr17:48432431 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.660G>C (p.Glu220Asp) single nucleotide variant not provided [RCV002120920] Chr17:50354439 [GRCh38]
Chr17:48431800 [GRCh37]
Chr17:17q21.33
benign
NM_022167.4(XYLT2):c.492C>T (p.Ile164=) single nucleotide variant not provided [RCV002202728] Chr17:50353986 [GRCh38]
Chr17:48431347 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.2493T>C (p.Ser831=) single nucleotide variant not provided [RCV002161868] Chr17:50360186 [GRCh38]
Chr17:48437547 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.2343G>A (p.Leu781=) single nucleotide variant not provided [RCV002179634] Chr17:50360036 [GRCh38]
Chr17:48437397 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.2073C>T (p.Ile691=) single nucleotide variant not provided [RCV002156743] Chr17:50358338 [GRCh38]
Chr17:48435699 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.15G>A (p.Ala5=) single nucleotide variant not provided [RCV002181858] Chr17:50346155 [GRCh38]
Chr17:48423516 [GRCh37]
Chr17:17q21.33
likely benign
NM_022167.4(XYLT2):c.629-17C>T single nucleotide variant not provided [RCV002142424] Chr17:50354391 [GRCh38]
Chr17:48431752 [GRCh37]
Chr17:17q21.33
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15517 AgrOrtholog
COSMIC XYLT2 COSMIC
Ensembl Genes ENSG00000015532 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000017003 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000365733 UniProtKB/TrEMBL
  ENSP00000425511 UniProtKB/TrEMBL
  ENSP00000426501 UniProtKB/TrEMBL
  ENSP00000428350 UniProtKB/TrEMBL
  ENSP00000460517 UniProtKB/TrEMBL
Ensembl Transcript ENST00000017003 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000376550 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000507602 UniProtKB/TrEMBL
  ENST00000509778 UniProtKB/TrEMBL
  ENST00000511654 UniProtKB/TrEMBL
  ENST00000574840 UniProtKB/TrEMBL
GTEx ENSG00000015532 GTEx
HGNC ID HGNC:15517 ENTREZGENE
Human Proteome Map XYLT2 Human Proteome Map
InterPro Glyco_trans_14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  XylT UniProtKB/Swiss-Prot
  XYLT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  XylT_C UniProtKB/TrEMBL
KEGG Report hsa:64132 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 64132 ENTREZGENE
OMIM 264800 OMIM
  605822 OMIM
  608125 OMIM
PANTHER PTHR46025 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Branch UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Xylo_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37974 PharmGKB
UniProt A0A0C4DFW8_HUMAN UniProtKB/TrEMBL
  B4DT06 ENTREZGENE, UniProtKB/TrEMBL
  D6RCT0_HUMAN UniProtKB/TrEMBL
  H0YB00_HUMAN UniProtKB/TrEMBL
  I3L3K2_HUMAN UniProtKB/TrEMBL
  Q9H1B5 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q6UY41 UniProtKB/Swiss-Prot
  Q86V00 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-10 XYLT2  xylosyltransferase 2    xylosyltransferase II  Symbol and/or name change 5135510 APPROVED
2011-08-17 XYLT2  xylosyltransferase II  XYLT2  xylosyltransferase II  Symbol and/or name change 5135510 APPROVED