SHMT1 (serine hydroxymethyltransferase 1) - Rat Genome Database

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Gene: SHMT1 (serine hydroxymethyltransferase 1) Homo sapiens
Analyze
Symbol: SHMT1
Name: serine hydroxymethyltransferase 1
RGD ID: 1323770
HGNC Page HGNC:10850
Description: Enables several functions, including anion binding activity; glycine hydroxymethyltransferase activity; and nucleic acid binding activity. Involved in several processes, including cellular response to tetrahydrofolate; protein homotetramerization; and serine family amino acid metabolic process. Located in cytosol and nucleoplasm. Implicated in breast cancer. Biomarker of ovarian cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 14 kDa protein; CSHMT; cytoplasmic serine hydroxymethyltransferase; glycine hydroxymethyltransferase; MGC15229; MGC24556; serine hydroxymethyltransferase 1 (soluble); serine hydroxymethyltransferase, cytosolic; serine methylase; SHMT
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: SHMT1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381718,327,873 - 18,363,550 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1718,327,873 - 18,363,550 (-)EnsemblGRCh38hg38GRCh38
GRCh371718,231,187 - 18,266,864 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361718,171,912 - 18,207,581 (-)NCBINCBI36Build 36hg18NCBI36
Build 341718,171,912 - 18,207,581NCBI
Celera1719,172,258 - 19,207,893 (-)NCBICelera
Cytogenetic Map17p11.2NCBI
HuRef1717,984,719 - 18,020,240 (-)NCBIHuRef
CHM1_11718,239,946 - 18,275,839 (-)NCBICHM1_1
T2T-CHM13v2.01718,274,679 - 18,310,356 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,3,7,8-tetrabromodibenzodioxine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-hydroxypropanoic acid  (EXP)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-tert-Octylphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (ISO)
alpha-pinene  (EXP)
amitrole  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
atrazine  (ISO)
auramine O  (EXP)
azathioprine  (EXP)
benzatropine  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-lapachone  (EXP)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
bisphenol F  (EXP)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
chromium(6+)  (ISO)
clofibrate  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
Cuprizon  (EXP,ISO)
cyclosporin A  (EXP)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (EXP)
dioxygen  (ISO)
elemental selenium  (ISO)
endosulfan  (ISO)
Enterolactone  (EXP)
epoxiconazole  (ISO)
Evodiamine  (ISO)
flutamide  (ISO)
folic acid  (EXP)
fumonisin B1  (ISO)
gentamycin  (ISO)
indometacin  (EXP,ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
lidocaine  (ISO)
lipopolysaccharide  (EXP)
methidathion  (ISO)
methimazole  (ISO)
methotrexate  (EXP)
nefazodone  (ISO)
nickel atom  (EXP)
nitrofen  (ISO)
O-methyleugenol  (EXP)
ozone  (EXP,ISO)
p-tert-Amylphenol  (ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
pyridoxine  (EXP)
quercetin  (ISO)
rac-lactic acid  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
selenium atom  (ISO)
silicon dioxide  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
sulfadimethoxine  (ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
trovafloxacin  (ISO)
tungsten  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IEA)
cytosol  (IDA,TAS)
extracellular exosome  (HDA)
mitochondrion  (IBA)
nucleoplasm  (IDA)
nucleus  (IBA,IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Polymorphism of cytosolic serine hydroxymethyltransferase, estrogen and breast cancer risk among Chinese women in Taiwan. Cheng CW, etal., Breast Cancer Res Treat. 2008 Sep;111(1):145-55. Epub 2007 Sep 22.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Genetic polymorphisms in the one-carbon metabolism pathway and breast cancer risk: a population-based case-control study and meta-analyses. Lissowska J, etal., Int J Cancer. 2007 Jun 15;120(12):2696-703.
4. Affinity purification and characterization of serine hydroxymethyltransferases from rat liver. Masuda T, etal., J Biochem. 1987 Mar;101(3):643-52.
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. Activities of hepatic cytosolic and mitochondrial forms of serine hydroxymethyltransferase and hepatic glycine concentration are affected by vitamin B-6 intake in rats. Scheer JB, etal., J Nutr 2005 Feb;135(2):233-8.
10. Proteomics success story. Towards early detection of breast and ovarian cancer: plasma proteomics as a tool to find novel markers. Souchelnytskyi S, etal., Proteomics. 2006 Sep;6 Suppl 2:65-8.
11. Trafficking of intracellular folates. Stover PJ and Field MS, Adv Nutr. 2011 Jul;2(4):325-31. doi: 10.3945/¿an.111.000596. Epub 2011 Jun 28.
12. Update and new concepts in vitamin responsive disorders of folate transport and metabolism. Watkins D and Rosenblatt DS, J Inherit Metab Dis. 2012 Jul;35(4):665-70. doi: 10.1007/s10545-011-9418-1. Epub 2011 Nov 23.
13. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:627563   PMID:6794659   PMID:6795186   PMID:8125298   PMID:8505317   PMID:8527925   PMID:8533763   PMID:8786078   PMID:9056951   PMID:9573390   PMID:9753690   PMID:10549165  
PMID:10995219   PMID:11063567   PMID:11278996   PMID:11386852   PMID:11516159   PMID:11802770   PMID:11997338   PMID:12161434   PMID:12477932   PMID:12604405   PMID:12615003   PMID:14656021  
PMID:15059614   PMID:15060097   PMID:15122597   PMID:15198953   PMID:15489334   PMID:15531579   PMID:15598699   PMID:15797993   PMID:16006999   PMID:16046727   PMID:16049973   PMID:16169070  
PMID:16341674   PMID:16365025   PMID:16447238   PMID:16536979   PMID:17035141   PMID:17074544   PMID:17113224   PMID:17119116   PMID:17206530   PMID:17311259   PMID:17420066   PMID:17446168  
PMID:17482557   PMID:17595805   PMID:17891500   PMID:17904392   PMID:18029348   PMID:18378616   PMID:18381459   PMID:18427977   PMID:18635682   PMID:18830263   PMID:18996879   PMID:19020309  
PMID:19048631   PMID:19056867   PMID:19064578   PMID:19086053   PMID:19159907   PMID:19161160   PMID:19223009   PMID:19336370   PMID:19513116   PMID:19619240   PMID:19692168   PMID:19706844  
PMID:19707223   PMID:19734143   PMID:19751277   PMID:19774638   PMID:19776626   PMID:19777601   PMID:19858780   PMID:20031554   PMID:20101025   PMID:20140262   PMID:20386493   PMID:20398908  
PMID:20453000   PMID:20458436   PMID:20511665   PMID:20544798   PMID:20615890   PMID:20634891   PMID:20670920   PMID:20737570   PMID:20842733   PMID:20852008   PMID:20877624   PMID:20920350  
PMID:20977478   PMID:21055808   PMID:21090237   PMID:21178087   PMID:21687976   PMID:21873635   PMID:21987236   PMID:21988832   PMID:22044939   PMID:22194612   PMID:22220685   PMID:22803112  
PMID:22863883   PMID:22939629   PMID:23322534   PMID:23376485   PMID:23421317   PMID:23474074   PMID:23533145   PMID:24075985   PMID:24223914   PMID:24362509   PMID:24641398   PMID:24698160  
PMID:24716966   PMID:24789272   PMID:25194438   PMID:25412303   PMID:25416956   PMID:25619277   PMID:26125758   PMID:26316272   PMID:26344197   PMID:26666829   PMID:26950450   PMID:26972000  
PMID:27503909   PMID:27530298   PMID:28288142   PMID:28302793   PMID:28380382   PMID:28514442   PMID:28760597   PMID:28762673   PMID:29073064   PMID:29321350   PMID:29395067   PMID:30071536  
PMID:30411815   PMID:30456721   PMID:30500180   PMID:30613765   PMID:30809670   PMID:31091453   PMID:31118236   PMID:31124332   PMID:31515488   PMID:31586073   PMID:31713293   PMID:31772275  
PMID:32235678   PMID:32296183   PMID:33001583   PMID:33259775   PMID:33326752   PMID:33660365   PMID:33957083   PMID:33961781   PMID:33974584   PMID:34341479   PMID:34857952   PMID:35016035  
PMID:35256949   PMID:35384245   PMID:35446349   PMID:35509820   PMID:35831314   PMID:35944360   PMID:36114006   PMID:36215168   PMID:36417280   PMID:36604567   PMID:36634849   PMID:37249651  
PMID:37317656   PMID:37827155   PMID:38996576  


Genomics

Comparative Map Data
SHMT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381718,327,873 - 18,363,550 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1718,327,873 - 18,363,550 (-)EnsemblGRCh38hg38GRCh38
GRCh371718,231,187 - 18,266,864 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361718,171,912 - 18,207,581 (-)NCBINCBI36Build 36hg18NCBI36
Build 341718,171,912 - 18,207,581NCBI
Celera1719,172,258 - 19,207,893 (-)NCBICelera
Cytogenetic Map17p11.2NCBI
HuRef1717,984,719 - 18,020,240 (-)NCBIHuRef
CHM1_11718,239,946 - 18,275,839 (-)NCBICHM1_1
T2T-CHM13v2.01718,274,679 - 18,310,356 (-)NCBIT2T-CHM13v2.0
Shmt1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391160,679,723 - 60,702,062 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1160,678,930 - 60,702,544 (-)EnsemblGRCm39 Ensembl
GRCm381160,788,897 - 60,811,265 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1160,788,104 - 60,811,718 (-)EnsemblGRCm38mm10GRCm38
MGSCv371160,602,399 - 60,624,767 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361161,219,982 - 61,242,350 (-)NCBIMGSCv36mm8
MGSCv361160,605,092 - 60,627,460 (-)NCBIMGSCv36mm8
Cytogenetic Map11B2NCBI
cM Map1137.84NCBI
Shmt1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81045,968,959 - 45,990,341 (-)NCBIGRCr8
mRatBN7.21045,468,698 - 45,490,833 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1045,468,700 - 45,497,820 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1050,170,944 - 50,199,114 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01049,661,340 - 49,689,514 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01045,164,929 - 45,193,103 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01047,030,813 - 47,059,216 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1047,031,050 - 47,059,216 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01046,802,986 - 46,831,051 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41046,936,605 - 46,964,779 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11046,948,782 - 46,971,713 (-)NCBI
Celera1044,724,251 - 44,752,341 (-)NCBICelera
Cytogenetic Map10q22NCBI
Shmt1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547810,978,139 - 11,001,202 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495547810,972,791 - 11,001,535 (+)NCBIChiLan1.0ChiLan1.0
SHMT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21952,905,330 - 52,940,088 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11757,616,479 - 57,650,574 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01732,870,949 - 32,905,690 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11737,849,206 - 37,884,220 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1737,849,206 - 37,884,220 (+)Ensemblpanpan1.1panPan2
SHMT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1541,221,531 - 41,248,653 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl541,221,562 - 41,253,166 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha541,361,842 - 41,388,892 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0541,329,062 - 41,356,290 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl541,329,080 - 41,356,907 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1541,296,632 - 41,323,803 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0541,244,262 - 41,272,073 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0541,435,940 - 41,463,042 (+)NCBIUU_Cfam_GSD_1.0
Shmt1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560260,989,489 - 61,018,689 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367411,849,609 - 1,877,727 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367411,849,239 - 1,877,724 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SHMT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1260,416,463 - 60,435,450 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11260,414,421 - 60,435,451 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SHMT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11617,371,704 - 17,408,499 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660593,494,856 - 3,535,333 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Shmt1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248493,114,876 - 3,146,248 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248493,108,875 - 3,146,669 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SHMT1
49 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004169.4(SHMT1):c.519+2678C>G single nucleotide variant Lung cancer [RCV000100375] Chr17:18344818 [GRCh38]
Chr17:18248132 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh38/hg38 17p11.2(chr17:16879232-18970941)x3 copy number gain See cases [RCV000050888] Chr17:16879232..18970941 [GRCh38]
Chr17:16782546..18874254 [GRCh37]
Chr17:16723271..18814979 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15776915-18771753)x1 copy number loss See cases [RCV000050513] Chr17:15776915..18771753 [GRCh38]
Chr17:15680229..18675066 [GRCh37]
Chr17:15620954..18615791 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1 copy number loss See cases [RCV000050602] Chr17:15898032..20620700 [GRCh38]
Chr17:15801346..20524013 [GRCh37]
Chr17:15742071..20464605 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16879232-20390725)x3 copy number gain See cases [RCV000050622] Chr17:16879232..20390725 [GRCh38]
Chr17:16782546..20294038 [GRCh37]
Chr17:16723271..20234630 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16879232-20390725)x1 copy number loss See cases [RCV000050624] Chr17:16879232..20390725 [GRCh38]
Chr17:16782546..20294038 [GRCh37]
Chr17:16723271..20234630 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3 copy number gain See cases [RCV000051852] Chr17:15259164..20925299 [GRCh38]
Chr17:15162481..20828612 [GRCh37]
Chr17:15103206..20769204 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15897832-20620841)x3 copy number gain See cases [RCV000051853] Chr17:15897832..20620841 [GRCh38]
Chr17:15801146..20524154 [GRCh37]
Chr17:15741871..20464746 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16836827-20340442)x3 copy number gain See cases [RCV000051876] Chr17:16836827..20340442 [GRCh38]
Chr17:16740141..20243755 [GRCh37]
Chr17:16680866..20184347 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16836827-20504849)x3 copy number gain See cases [RCV000051877] Chr17:16836827..20504849 [GRCh38]
Chr17:16740141..20408162 [GRCh37]
Chr17:16680866..20348754 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16656168-20390725)x3 copy number gain See cases [RCV000051855] Chr17:16656168..20390725 [GRCh38]
Chr17:16559482..20294038 [GRCh37]
Chr17:16500207..20234630 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16919369-20289856)x3 copy number gain See cases [RCV000051879] Chr17:16919369..20289856 [GRCh38]
Chr17:16822683..20193169 [GRCh37]
Chr17:16763408..20133761 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16692462-20390725)x3 copy number gain See cases [RCV000051858] Chr17:16692462..20390725 [GRCh38]
Chr17:16595776..20294038 [GRCh37]
Chr17:16536501..20234630 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16713514-20582527)x3 copy number gain See cases [RCV000051860] Chr17:16713514..20582527 [GRCh38]
Chr17:16616828..20485840 [GRCh37]
Chr17:16557553..20426432 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3 copy number gain See cases [RCV000051849] Chr17:15234685..20620700 [GRCh38]
Chr17:15138002..20524013 [GRCh37]
Chr17:15078727..20464605 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16713515-20340442)x3 copy number gain See cases [RCV000051871] Chr17:16713515..20340442 [GRCh38]
Chr17:16616829..20243755 [GRCh37]
Chr17:16557554..20184347 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16760817-20429770)x3 copy number gain See cases [RCV000051872] Chr17:16760817..20429770 [GRCh38]
Chr17:16664131..20333083 [GRCh37]
Chr17:16604856..20273675 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16760818-20504849)x3 copy number gain See cases [RCV000051873] Chr17:16760818..20504849 [GRCh38]
Chr17:16664132..20408162 [GRCh37]
Chr17:16604857..20348754 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1 copy number loss See cases [RCV000054329] Chr17:15952071..18362819 [GRCh38]
Chr17:15855385..18266133 [GRCh37]
Chr17:15796110..18206858 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:16060129-20620841)x1 copy number loss See cases [RCV000054330] Chr17:16060129..20620841 [GRCh38]
Chr17:15963443..20524154 [GRCh37]
Chr17:15904168..20464746 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16117885-18362819)x1 copy number loss See cases [RCV000054333] Chr17:16117885..18362819 [GRCh38]
Chr17:16021199..18266133 [GRCh37]
Chr17:15961924..18206858 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16760818-20390725)x1 copy number loss See cases [RCV000054337] Chr17:16760818..20390725 [GRCh38]
Chr17:16664132..20294038 [GRCh37]
Chr17:16604857..20234630 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16817557-18362819)x1 copy number loss See cases [RCV000054339] Chr17:16817557..18362819 [GRCh38]
Chr17:16720871..18266133 [GRCh37]
Chr17:16661596..18206858 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16836827-20465067)x1 copy number loss See cases [RCV000054355] Chr17:16836827..20465067 [GRCh38]
Chr17:16740141..20368380 [GRCh37]
Chr17:16680866..20308972 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16858444-20340442)x1 copy number loss See cases [RCV000054356] Chr17:16858444..20340442 [GRCh38]
Chr17:16761758..20243755 [GRCh37]
Chr17:16702483..20184347 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16858444-20465067)x1 copy number loss See cases [RCV000054357] Chr17:16858444..20465067 [GRCh38]
Chr17:16761758..20368380 [GRCh37]
Chr17:16702483..20308972 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17150076-18415759)x1 copy number loss See cases [RCV000054359] Chr17:17150076..18415759 [GRCh38]
Chr17:17053390..18319073 [GRCh37]
Chr17:16994115..18259798 [NCBI36]
Chr17:17p11.2
pathogenic
NM_004169.4(SHMT1):c.594C>T (p.Ile198=) single nucleotide variant Malignant melanoma [RCV000071364] Chr17:18340739 [GRCh38]
Chr17:18244053 [GRCh37]
Chr17:18184778 [NCBI36]
Chr17:17p11.2
not provided
NM_004169.5(SHMT1):c.1420C>T (p.Leu474Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV000144920] Chr17:18328782 [GRCh38]
Chr17:18232096 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh38/hg38 17p11.2(chr17:16879232-20316151)x3 copy number gain See cases [RCV000133695] Chr17:16879232..20316151 [GRCh38]
Chr17:16782546..20219464 [GRCh37]
Chr17:16723271..20160056 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16854250-20492169)x3 copy number gain See cases [RCV000134467] Chr17:16854250..20492169 [GRCh38]
Chr17:16757564..20395482 [GRCh37]
Chr17:16698289..20336074 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17788412-18333372)x1 copy number loss See cases [RCV000135862] Chr17:17788412..18333372 [GRCh38]
Chr17:17691726..18236686 [GRCh37]
Chr17:17632451..18177411 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-18333372)x1 copy number loss See cases [RCV000135774] Chr17:16734588..18333372 [GRCh38]
Chr17:16637902..18236686 [GRCh37]
Chr17:16578627..18177411 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17331511-20022528)x1 copy number loss See cases [RCV000135874] Chr17:17331511..20022528 [GRCh38]
Chr17:17234825..19925841 [GRCh37]
Chr17:17175550..19866433 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16879233-20390697)x1 copy number loss See cases [RCV000135996] Chr17:16879233..20390697 [GRCh38]
Chr17:16782547..20294010 [GRCh37]
Chr17:16723272..20234602 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16734558-20390697)x3 copy number gain See cases [RCV000135997] Chr17:16734558..20390697 [GRCh38]
Chr17:16637872..20294010 [GRCh37]
Chr17:16578597..20234602 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16734558-20390697)x1 copy number loss See cases [RCV000135998] Chr17:16734558..20390697 [GRCh38]
Chr17:16637872..20294010 [GRCh37]
Chr17:16578597..20234602 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-20390725)x1 copy number loss See cases [RCV000136906] Chr17:16734588..20390725 [GRCh38]
Chr17:16637902..20294038 [GRCh37]
Chr17:16578627..20234630 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-20316151)x1 copy number loss See cases [RCV000136951] Chr17:16734588..20316151 [GRCh38]
Chr17:16637902..20219464 [GRCh37]
Chr17:16578627..20160056 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16699816-20390725)x1 copy number loss See cases [RCV000137974] Chr17:16699816..20390725 [GRCh38]
Chr17:16603130..20294038 [GRCh37]
Chr17:16543855..20234630 [NCBI36]
Chr17:17p11.2
pathogenic|likely benign
GRCh38/hg38 17p11.2(chr17:16854250-20492214)x3 copy number gain See cases [RCV000138255] Chr17:16854250..20492214 [GRCh38]
Chr17:16757564..20395527 [GRCh37]
Chr17:16698289..20336119 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17331511-19017784)x3 copy number gain See cases [RCV000138572] Chr17:17331511..19017784 [GRCh38]
Chr17:17234825..18921097 [GRCh37]
Chr17:17175550..18861822 [NCBI36]
Chr17:17p11.2
uncertain significance
GRCh38/hg38 17p11.2(chr17:16989087-20370816)x1 copy number loss See cases [RCV000139239] Chr17:16989087..20370816 [GRCh38]
Chr17:16892401..20274129 [GRCh37]
Chr17:16833126..20214721 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17748602-18551638)x3 copy number gain See cases [RCV000139243] Chr17:17748602..18551638 [GRCh38]
Chr17:17651916..18454952 [GRCh37]
Chr17:17592641..18395677 [NCBI36]
Chr17:17p11.2
likely benign
GRCh38/hg38 17p11.2(chr17:16854250-20560048)x3 copy number gain See cases [RCV000139188] Chr17:16854250..20560048 [GRCh38]
Chr17:16757564..20463361 [GRCh37]
Chr17:16698289..20403953 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16699694-20530646)x3 copy number gain See cases [RCV000140217] Chr17:16699694..20530646 [GRCh38]
Chr17:16603008..20433959 [GRCh37]
Chr17:16543733..20374551 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1 copy number loss See cases [RCV000139510] Chr17:15883037..20620700 [GRCh38]
Chr17:15786351..20524013 [GRCh37]
Chr17:15727076..20464605 [NCBI36]
Chr17:17p12-11.2
pathogenic|likely pathogenic
GRCh38/hg38 17p11.2(chr17:16656162-20390697)x1 copy number loss See cases [RCV000139558] Chr17:16656162..20390697 [GRCh38]
Chr17:16559476..20294010 [GRCh37]
Chr17:16500201..20234602 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17018951-20148630)x1 copy number loss See cases [RCV000141105] Chr17:17018951..20148630 [GRCh38]
Chr17:16922265..20051943 [GRCh37]
Chr17:16862990..19992535 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16699816-20492214)x3 copy number gain See cases [RCV000140852] Chr17:16699816..20492214 [GRCh38]
Chr17:16603130..20395527 [GRCh37]
Chr17:16543855..20336119 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16838097-20436415)x1 copy number loss See cases [RCV000141975] Chr17:16838097..20436415 [GRCh38]
Chr17:16741411..20339728 [GRCh37]
Chr17:16682136..20280320 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17067833-19019419)x1 copy number loss See cases [RCV000141729] Chr17:17067833..19019419 [GRCh38]
Chr17:16971147..18922732 [GRCh37]
Chr17:16911872..18863457 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:18077127-18521388)x3 copy number gain See cases [RCV000142462] Chr17:18077127..18521388 [GRCh38]
Chr17:17980441..18424702 [GRCh37]
Chr17:17921166..18365427 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16858500-20570955)x3 copy number gain See cases [RCV000142075] Chr17:16858500..20570955 [GRCh38]
Chr17:16761814..20474268 [GRCh37]
Chr17:16702539..20414860 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3 copy number gain See cases [RCV000142169] Chr17:15552362..19014200 [GRCh38]
Chr17:15455676..18917513 [GRCh37]
Chr17:15396401..18858238 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-18834703)x1 copy number loss See cases [RCV000142986] Chr17:16734588..18834703 [GRCh38]
Chr17:16637902..18738016 [GRCh37]
Chr17:16578627..18678741 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16696708-20492860)x3 copy number gain See cases [RCV000143381] Chr17:16696708..20492860 [GRCh38]
Chr17:16600022..20396173 [GRCh37]
Chr17:16540747..20336765 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16718415-20546210)x3 copy number gain See cases [RCV000143417] Chr17:16718415..20546210 [GRCh38]
Chr17:16621729..20449523 [GRCh37]
Chr17:16562454..20390115 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16858500-20559337)x1 copy number loss See cases [RCV000143210] Chr17:16858500..20559337 [GRCh38]
Chr17:16761814..20462650 [GRCh37]
Chr17:16702539..20403242 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1 copy number loss See cases [RCV000143177] Chr17:15883037..20658018 [GRCh38]
Chr17:15786351..20561331 [GRCh37]
Chr17:15727076..20501923 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16699816-20428292)x1 copy number loss See cases [RCV000143181] Chr17:16699816..20428292 [GRCh38]
Chr17:16603130..20331605 [GRCh37]
Chr17:16543855..20272197 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3 copy number gain See cases [RCV000143715] Chr17:16426633..20998588 [GRCh38]
Chr17:16329947..20901901 [GRCh37]
Chr17:16270672..20842493 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1 copy number loss See cases [RCV000143650] Chr17:15850859..20649235 [GRCh38]
Chr17:15754173..20552548 [GRCh37]
Chr17:15694898..20493140 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16853120-20436482)x1 copy number loss See cases [RCV000143596] Chr17:16853120..20436482 [GRCh38]
Chr17:16756434..20339795 [GRCh37]
Chr17:16697159..20280387 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1 copy number loss See cases [RCV000143485] Chr17:15729893..20510251 [GRCh38]
Chr17:15633207..20413564 [GRCh37]
Chr17:15573932..20354156 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16603130-20261191)x1 copy number loss See cases [RCV000449069] Chr17:16603130..20261191 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p12-11.2(chr17:15767020-20261250)x3 copy number gain See cases [RCV000240104] Chr17:15767020..20261250 [GRCh37]
Chr17:17p12-11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:17053390-19893098)x1 copy number loss See cases [RCV000239910] Chr17:17053390..19893098 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16654302-20261250)x1 copy number loss See cases [RCV000240274] Chr17:16654302..20261250 [GRCh37]
Chr17:17p11.2
pathogenic
arr[hg19]17p11.2(16,757,111-20,219,651)x3 duplication Potocki-Lupski syndrome [RCV000591005] Chr17:16757111..20219651 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16740141-20261191)x3 copy number gain See cases [RCV000449384] Chr17:16740141..20261191 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16651292-18722974)x1 copy number loss See cases [RCV000449355] Chr17:16651292..18722974 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p12-11.2(chr17:10771948-21510992)x1 copy number loss See cases [RCV000447345] Chr17:10771948..21510992 [GRCh37]
Chr17:17p12-11.2
pathogenic
GRCh37/hg19 17p12-11.2(chr17:15745315-20261191)x1 copy number loss See cases [RCV000446498] Chr17:15745315..20261191 [GRCh37]
Chr17:17p12-11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20304295)x1 copy number loss See cases [RCV000446300] Chr17:16761814..20304295 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16637902-20261250)x1 copy number loss See cases [RCV000446465] Chr17:16637902..20261250 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:17262786-18250574)x3 copy number gain See cases [RCV000447624] Chr17:17262786..18250574 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16741771-20430791)x3 copy number gain See cases [RCV000445753] Chr17:16741771..20430791 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:18265938-18284408)x3 copy number gain See cases [RCV000447997] Chr17:18265938..18284408 [GRCh37]
Chr17:17p11.2
benign
GRCh37/hg19 17p11.2(chr17:16757564-20261191)x1 copy number loss See cases [RCV000448145] Chr17:16757564..20261191 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20304154)x1 copy number loss See cases [RCV000448636] Chr17:16741411..20304154 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20449523)x1 copy number loss See cases [RCV000448404] Chr17:16741411..20449523 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20408379)x1 copy number loss See cases [RCV000447955] Chr17:16741411..20408379 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20462723)x1 copy number loss See cases [RCV000448752] Chr17:16761814..20462723 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16772264-20433502)x3 copy number gain See cases [RCV000448097] Chr17:16772264..20433502 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16745600-20396173)x1 copy number loss See cases [RCV000510506] Chr17:16745600..20396173 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:17200426-21900910)x1 copy number loss See cases [RCV000510254] Chr17:17200426..21900910 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20339795)x3 copy number gain See cases [RCV000510267] Chr17:16761814..20339795 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16727264-20413564)x1 copy number loss See cases [RCV000511412] Chr17:16727264..20413564 [GRCh37]
Chr17:17p11.2
pathogenic
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 17p11.2(chr17:16772264-20297091)x1 copy number loss See cases [RCV000511915] Chr17:16772264..20297091 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20410218)x1 copy number loss See cases [RCV000511460] Chr17:16741411..20410218 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16738161-20338182)x3 copy number gain See cases [RCV000511433] Chr17:16738161..20338182 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16651292-20437532)x3 copy number gain See cases [RCV000511042] Chr17:16651292..20437532 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16727264-20395889)x1 copy number loss See cases [RCV000511111] Chr17:16727264..20395889 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16591260-20473937)x3 copy number gain See cases [RCV000512356] Chr17:16591260..20473937 [GRCh37]
Chr17:17p11.2
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
GRCh37/hg19 17p11.2(chr17:16782546-20294038) copy number loss Sleep abnormality [RCV000626510] Chr17:16782546..20294038 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16842163-20217777) copy number gain Delayed speech and language development [RCV000626511] Chr17:16842163..20217777 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20489023)x1 copy number loss See cases [RCV000512446] Chr17:16741411..20489023 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16727264-20310241)x1 copy number loss not provided [RCV000683897] Chr17:16727264..20310241 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20430791)x1 copy number loss not provided [RCV000683898] Chr17:16741411..20430791 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20292897)x3 copy number gain not provided [RCV000683900] Chr17:16761814..20292897 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16999980-20298979)x1 copy number loss not provided [RCV000683901] Chr17:16999980..20298979 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:17021607-20015978)x1 copy number loss not provided [RCV000683902] Chr17:17021607..20015978 [GRCh37]
Chr17:17p11.2
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
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 17p11.2(chr17:16768248-20391959)x1 copy number loss not provided [RCV000739423] Chr17:16768248..20391959 [GRCh37]
Chr17:17p11.2
pathogenic
Single allele duplication Autism [RCV000754201] Chr17:16770855..20422847 [GRCh38]
Chr17:17p11.2
pathogenic
NC_000017.11:g.(?_16770855)_(20585863_?)del deletion Autism [RCV000754202] Chr17:16770855..20585863 [GRCh38]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16660721-20417975)x1 copy number loss not provided [RCV000739417] Chr17:16660721..20417975 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p12-11.2(chr17:15796140-20331131)x3 copy number gain not provided [RCV000751941] Chr17:15796140..20331131 [GRCh37]
Chr17:17p12-11.2
pathogenic
NM_004169.5(SHMT1):c.753G>C (p.Val251=) single nucleotide variant not provided [RCV000973746] Chr17:18340104 [GRCh38]
Chr17:18243418 [GRCh37]
Chr17:17p11.2
benign
NM_004169.5(SHMT1):c.2T>G (p.Met1Arg) single nucleotide variant not provided [RCV000949398] Chr17:18355980 [GRCh38]
Chr17:18259294 [GRCh37]
Chr17:17p11.2
likely benign
NM_004169.5(SHMT1):c.1054+6G>A single nucleotide variant not provided [RCV000891623] Chr17:18333160 [GRCh38]
Chr17:18236474 [GRCh37]
Chr17:17p11.2
likely benign
NM_004169.5(SHMT1):c.815-3C>T single nucleotide variant not provided [RCV000966250] Chr17:18335678 [GRCh38]
Chr17:18238992 [GRCh37]
Chr17:17p11.2
benign
NM_004169.5(SHMT1):c.1380C>T (p.Ala460=) single nucleotide variant not provided [RCV000948991] Chr17:18328822 [GRCh38]
Chr17:18232136 [GRCh37]
Chr17:17p11.2
benign
GRCh37/hg19 17p11.2(chr17:16908991-18322254)x1 copy number loss See cases [RCV000790581] Chr17:16908991..18322254 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16842991-20217316) copy number loss Smith-Magenis syndrome [RCV000767738] Chr17:16842991..20217316 [GRCh37]
Chr17:17p11.2
pathogenic
NM_004169.5(SHMT1):c.242+10T>C single nucleotide variant not provided [RCV000962571] Chr17:18353662 [GRCh38]
Chr17:18256976 [GRCh37]
Chr17:17p11.2
benign
NM_004169.5(SHMT1):c.2T>A (p.Met1Lys) single nucleotide variant not provided [RCV000880053] Chr17:18355980 [GRCh38]
Chr17:18259294 [GRCh37]
Chr17:17p11.2
benign
GRCh37/hg19 17p11.2(chr17:16651292-20286898) copy number loss Smith-Magenis syndrome [RCV002280651] Chr17:16651292..20286898 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p12-11.2(chr17:15632431-18726389)x1 copy number loss not provided [RCV001006874] Chr17:15632431..18726389 [GRCh37]
Chr17:17p12-11.2
pathogenic
NM_004169.5(SHMT1):c.520-6C>G single nucleotide variant not provided [RCV000916779] Chr17:18340819 [GRCh38]
Chr17:18244133 [GRCh37]
Chr17:17p11.2
likely benign
NM_004169.5(SHMT1):c.40C>T (p.Leu14=) single nucleotide variant not provided [RCV000939980] Chr17:18355942 [GRCh38]
Chr17:18259256 [GRCh37]
Chr17:17p11.2
likely benign
NM_004169.5(SHMT1):c.637C>T (p.Arg213Trp) single nucleotide variant not provided [RCV000911097] Chr17:18340220 [GRCh38]
Chr17:18243534 [GRCh37]
Chr17:17p11.2
likely benign
NM_004169.5(SHMT1):c.1018G>C (p.Glu340Gln) single nucleotide variant not provided [RCV000889792] Chr17:18333202 [GRCh38]
Chr17:18236516 [GRCh37]
Chr17:17p11.2
benign
NM_004169.5(SHMT1):c.647A>G (p.Lys216Arg) single nucleotide variant not provided [RCV000957429] Chr17:18340210 [GRCh38]
Chr17:18243524 [GRCh37]
Chr17:17p11.2
benign
NM_004169.5(SHMT1):c.753G>A (p.Val251=) single nucleotide variant not provided [RCV000911096] Chr17:18340104 [GRCh38]
Chr17:18243418 [GRCh37]
Chr17:17p11.2
benign
GRCh37/hg19 17p11.2(chr17:16763370-20395611)x1 copy number loss not provided [RCV001259291] Chr17:16763370..20395611 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:18125256-18304190)x3 copy number gain not provided [RCV001259292] Chr17:18125256..18304190 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh37/hg19 17p12-11.2(chr17:15810015-18537436)x1 copy number loss not provided [RCV001259296] Chr17:15810015..18537436 [GRCh37]
Chr17:17p12-11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:17151140-20187953) copy number loss Smith-Magenis syndrome [RCV002280652] Chr17:17151140..20187953 [GRCh37]
Chr17:17p11.2
pathogenic
Single allele complex PMP22-RAI1 contiguous gene duplication syndrome [RCV002280690] Chr17:14876984..22124952 [GRCh37]
Chr17:17p12-11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20330062)x3 copy number gain not provided [RCV001259290] Chr17:16761814..20330062 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:17145361-20137943) copy number loss Smith-Magenis syndrome [RCV001352632] Chr17:17145361..20137943 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16601603-20063369) copy number gain Potocki-Lupski syndrome [RCV001352635] Chr17:16601603..20063369 [GRCh37]
Chr17:17p11.2
pathogenic
NM_004169.5(SHMT1):c.925A>G (p.Ile309Val) single nucleotide variant not specified [RCV004325374] Chr17:18335565 [GRCh38]
Chr17:18238879 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh37/hg19 17p11.2(chr17:16829153-20361747)x3 copy number gain Potocki-Lupski syndrome [RCV001801179] Chr17:16829153..20361747 [GRCh37]
Chr17:17p11.2
pathogenic
NC_000017.10:g.(?_16842861)_(19578885_?)del deletion Immunodeficiency, common variable, 2 [RCV002049406]|Joubert syndrome [RCV002047402] Chr17:16842861..19578885 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16664739-20217378)x1 copy number loss not provided [RCV002211424] Chr17:16664739..20217378 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:17579860-18469185) copy number gain Potocki-Lupski syndrome [RCV002280640] Chr17:17579860..18469185 [GRCh37]
Chr17:17p11.2
pathogenic
NC_000017.10:g.(?_16842861)_(19578885_?)dup duplication Familial aplasia of the vermis [RCV003116613]|Immunodeficiency, common variable, 2 [RCV003116614] Chr17:16842861..19578885 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh37/hg19 17p11.2(chr17:16664739-20370783) copy number gain Potocki-Lupski syndrome [RCV003236713] Chr17:16664739..20370783 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16736709-20339460)x3 copy number gain See cases [RCV002292216] Chr17:16736709..20339460 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh37/hg19 17p11.2(chr17:17103571-19331028)x3 copy number gain not provided [RCV002474502] Chr17:17103571..19331028 [GRCh37]
Chr17:17p11.2
pathogenic
NM_004169.5(SHMT1):c.1046T>C (p.Ile349Thr) single nucleotide variant not specified [RCV004163148] Chr17:18333174 [GRCh38]
Chr17:18236488 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_004169.5(SHMT1):c.1376C>T (p.Ala459Val) single nucleotide variant not specified [RCV004095978] Chr17:18328826 [GRCh38]
Chr17:18232140 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_004169.5(SHMT1):c.1421T>G (p.Leu474Arg) single nucleotide variant not specified [RCV004103511] Chr17:18328781 [GRCh38]
Chr17:18232095 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_004169.5(SHMT1):c.934G>A (p.Val312Ile) single nucleotide variant not specified [RCV004154412] Chr17:18333286 [GRCh38]
Chr17:18236600 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_004169.5(SHMT1):c.1030G>C (p.Glu344Gln) single nucleotide variant not specified [RCV004228490] Chr17:18333190 [GRCh38]
Chr17:18236504 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_004169.5(SHMT1):c.1135G>T (p.Ala379Ser) single nucleotide variant not specified [RCV004170819] Chr17:18330591 [GRCh38]
Chr17:18233905 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_004169.5(SHMT1):c.410G>A (p.Arg137His) single nucleotide variant not specified [RCV004090432] Chr17:18347605 [GRCh38]
Chr17:18250919 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_004169.5(SHMT1):c.343G>A (p.Val115Ile) single nucleotide variant not specified [RCV004250249] Chr17:18348340 [GRCh38]
Chr17:18251654 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_004169.5(SHMT1):c.1316C>T (p.Thr439Ile) single nucleotide variant not specified [RCV004257825] Chr17:18328886 [GRCh38]
Chr17:18232200 [GRCh37]
Chr17:17p11.2
likely benign
GRCh37/hg19 17p11.2(chr17:17116969-20217378)x1 copy number loss not provided [RCV003222939] Chr17:17116969..20217378 [GRCh37]
Chr17:17p11.2
pathogenic
NM_004169.5(SHMT1):c.7A>G (p.Met3Val) single nucleotide variant not specified [RCV004266483] Chr17:18355975 [GRCh38]
Chr17:18259289 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_004169.5(SHMT1):c.1433C>G (p.Pro478Arg) single nucleotide variant not specified [RCV004356382] Chr17:18328769 [GRCh38]
Chr17:18232083 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_004169.5(SHMT1):c.290A>T (p.Gln97Leu) single nucleotide variant not specified [RCV004342813] Chr17:18348393 [GRCh38]
Chr17:18251707 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh37/hg19 17p11.2(chr17:16651293-20450566)x1 copy number loss not provided [RCV003483315] Chr17:16651293..20450566 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p12-11.2(chr17:15694772-20582794)x1 copy number loss not provided [RCV003483314] Chr17:15694772..20582794 [GRCh37]
Chr17:17p12-11.2
pathogenic
Single allele duplication not provided [RCV003448668] Chr17:16757513..18772328 [GRCh37]
Chr17:17p11.2
pathogenic
NM_004169.5(SHMT1):c.773C>T (p.Thr258Ile) single nucleotide variant not provided [RCV003491478]|not specified [RCV004364893] Chr17:18340084 [GRCh38]
Chr17:18243398 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh37/hg19 17p12-11.2(chr17:15759103-20564268)x1 copy number loss not specified [RCV003987246] Chr17:15759103..20564268 [GRCh37]
Chr17:17p12-11.2
pathogenic
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 copy number gain not specified [RCV003987215] Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2
pathogenic
NM_004169.5(SHMT1):c.315G>C (p.Lys105Asn) single nucleotide variant not specified [RCV004451185] Chr17:18348368 [GRCh38]
Chr17:18251682 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_004169.5(SHMT1):c.700G>A (p.Gly234Arg) single nucleotide variant not specified [RCV004451189] Chr17:18340157 [GRCh38]
Chr17:18243471 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_004169.5(SHMT1):c.710C>T (p.Ala237Val) single nucleotide variant not specified [RCV004451190] Chr17:18340147 [GRCh38]
Chr17:18243461 [GRCh37]
Chr17:17p11.2
likely benign
NM_004169.5(SHMT1):c.788G>A (p.Arg263Gln) single nucleotide variant not specified [RCV004451191] Chr17:18340069 [GRCh38]
Chr17:18243383 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_004169.5(SHMT1):c.665G>A (p.Gly222Glu) single nucleotide variant not specified [RCV004451188] Chr17:18340192 [GRCh38]
Chr17:18243506 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_004169.5(SHMT1):c.1204C>T (p.Arg402Trp) single nucleotide variant not specified [RCV004451182] Chr17:18329356 [GRCh38]
Chr17:18232670 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_004169.5(SHMT1):c.1341G>T (p.Glu447Asp) single nucleotide variant not specified [RCV004451183] Chr17:18328861 [GRCh38]
Chr17:18232175 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_004169.5(SHMT1):c.322C>T (p.Pro108Ser) single nucleotide variant not specified [RCV004451186] Chr17:18348361 [GRCh38]
Chr17:18251675 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_004169.5(SHMT1):c.896G>T (p.Gly299Val) single nucleotide variant not specified [RCV004451192] Chr17:18335594 [GRCh38]
Chr17:18238908 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_004169.5(SHMT1):c.1189C>T (p.Arg397Trp) single nucleotide variant not specified [RCV004451181] Chr17:18329371 [GRCh38]
Chr17:18232685 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_004169.5(SHMT1):c.572G>A (p.Arg191His) single nucleotide variant not specified [RCV004451187] Chr17:18340761 [GRCh38]
Chr17:18244075 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_004169.5(SHMT1):c.266T>C (p.Ile89Thr) single nucleotide variant not specified [RCV004451184] Chr17:18348417 [GRCh38]
Chr17:18251731 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_004169.5(SHMT1):c.1231C>T (p.Arg411Cys) single nucleotide variant not specified [RCV004669694] Chr17:18329329 [GRCh38]
Chr17:18232643 [GRCh37]
Chr17:17p11.2
uncertain significance
NM_004169.5(SHMT1):c.468C>G (p.Asp156Glu) single nucleotide variant not specified [RCV004676381] Chr17:18347547 [GRCh38]
Chr17:18250861 [GRCh37]
Chr17:17p11.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2530
Count of miRNA genes:940
Interacting mature miRNAs:1140
Transcripts:ENST00000316694, ENST00000352886, ENST00000354098, ENST00000395682, ENST00000395684, ENST00000539052, ENST00000579558, ENST00000580002, ENST00000582352, ENST00000582653, ENST00000583780
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597195928GWAS1292002_Hglomerular filtration rate QTL GWAS1292002 (human)1e-08glomerular filtration rateglomerular filtration rate (CMO:0000490)171833754118337548Human
597122673GWAS1218747_Hmitochondrial DNA measurement QTL GWAS1218747 (human)2e-08mitochondrial DNA measurement171832995818329959Human
597058929GWAS1155003_HBMI-adjusted waist-hip ratio QTL GWAS1155003 (human)1e-14body size trait (VT:0100005)waist to hip ratio (WHR) (CMO:0000020)171834404818344049Human
597245854GWAS1341928_Haspartate aminotransferase measurement QTL GWAS1341928 (human)3e-08aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)171835052518350526Human
596960446GWAS1079965_Hglomerular filtration rate QTL GWAS1079965 (human)2e-10glomerular filtration rateglomerular filtration rate (CMO:0000490)171833754118337548Human
596960344GWAS1079863_Hglomerular filtration rate QTL GWAS1079863 (human)1e-08glomerular filtration rateglomerular filtration rate (CMO:0000490)171833754118337548Human
597032325GWAS1128399_Hblood protein measurement QTL GWAS1128399 (human)1e-31blood protein measurementblood protein measurement (CMO:0000028)171836025718360258Human
597343374GWAS1439448_Hserum alanine aminotransferase measurement QTL GWAS1439448 (human)1e-08serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)171835052518350526Human
1298406BP16_HBlood pressure QTL 16 (human)0.0004Blood pressurehypertension susceptibility171477864740778647Human
596953635GWAS1073154_HRed cell distribution width QTL GWAS1073154 (human)2e-10Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)171834145618341457Human
597381964GWAS1478038_HRed cell distribution width QTL GWAS1478038 (human)2e-10Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)171834145618341457Human
597350637GWAS1446711_Hbody height QTL GWAS1446711 (human)7e-57body height (VT:0001253)body height (CMO:0000106)171836064318360644Human
597135183GWAS1231257_Hglomerular filtration rate QTL GWAS1231257 (human)2e-10glomerular filtration rateglomerular filtration rate (CMO:0000490)171833754118337548Human
597189024GWAS1285098_Hmitochondrial DNA measurement QTL GWAS1285098 (human)3e-19mitochondrial DNA measurement171834228918342290Human
597308322GWAS1404396_HBMI-adjusted waist circumference QTL GWAS1404396 (human)4e-10body size trait (VT:0100005)171834404818344049Human
597169472GWAS1265546_HBMI-adjusted waist-hip ratio QTL GWAS1265546 (human)4e-13body size trait (VT:0100005)171834404818344049Human
407052346GWAS701322_Hobsolete_red blood cell distribution width QTL GWAS701322 (human)2e-10obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)171834145618341457Human
597120142GWAS1216216_Hblood protein measurement QTL GWAS1216216 (human)1e-63blood protein measurementblood protein measurement (CMO:0000028)171836025718360258Human
597309830GWAS1405904_H2-methylserine measurement QTL GWAS1405904 (human)2e-112-methylserine measurement171836025718360258Human
597243908GWAS1339982_Hserum alanine aminotransferase measurement QTL GWAS1339982 (human)7e-10serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)171835052518350526Human
597237924GWAS1333998_Hblood protein measurement QTL GWAS1333998 (human)2e-4728blood protein measurementblood protein measurement (CMO:0000028)171836064318360644Human
597120778GWAS1216852_Hblood protein measurement QTL GWAS1216852 (human)2e-4708blood protein measurementblood protein measurement (CMO:0000028)171836064318360644Human
597055848GWAS1151922_HBMI-adjusted waist circumference QTL GWAS1151922 (human)1e-12body size trait (VT:0100005)171834404818344049Human

Markers in Region
RH75041  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371718,231,813 - 18,231,973UniSTSGRCh37
Build 361718,172,538 - 18,172,698RGDNCBI36
Celera1719,172,884 - 19,173,044RGD
Cytogenetic Map17p11.2UniSTS
HuRef1717,985,345 - 17,985,505UniSTS
G60222  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371718,231,844 - 18,232,114UniSTSGRCh37
Build 361718,172,569 - 18,172,839RGDNCBI36
Celera1719,172,915 - 19,173,185RGD
Cytogenetic Map17p11.2UniSTS
HuRef1717,985,376 - 17,985,646UniSTS
TNG Radiation Hybrid Map179890.0UniSTS
PMC133987P5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371718,266,717 - 18,267,117UniSTSGRCh37
Build 361718,207,442 - 18,207,842RGDNCBI36
Celera1719,207,754 - 19,208,154RGD
Cytogenetic Map17p11.2UniSTS
HuRef1718,020,101 - 18,020,501UniSTS
PMC186597P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371718,267,017 - 18,267,205UniSTSGRCh37
Build 361718,207,742 - 18,207,930RGDNCBI36
Celera1719,208,054 - 19,208,242RGD
Cytogenetic Map17p11.2UniSTS
HuRef1718,020,401 - 18,020,589UniSTS
SHMT1_8625  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371718,231,007 - 18,231,801UniSTSGRCh37
Build 361718,171,732 - 18,172,526RGDNCBI36
Celera1719,172,078 - 19,172,872RGD
HuRef1717,984,539 - 17,985,333UniSTS
D17S1715  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371718,231,990 - 18,232,164UniSTSGRCh37
Build 361718,172,715 - 18,172,889RGDNCBI36
Celera1719,173,061 - 19,173,235RGD
Cytogenetic Map17p11.2UniSTS
HuRef1717,985,522 - 17,985,696UniSTS
G33160  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371718,231,163 - 18,231,332UniSTSGRCh37
Build 361718,171,888 - 18,172,057RGDNCBI36
Celera1719,172,234 - 19,172,403RGD
Cytogenetic Map17p11.2UniSTS
HuRef1717,984,695 - 17,984,864UniSTS
RH15951  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371718,231,324 - 18,231,462UniSTSGRCh37
Build 361718,172,049 - 18,172,187RGDNCBI36
Celera1719,172,395 - 19,172,533RGD
Cytogenetic Map17p11.2UniSTS
HuRef1717,984,856 - 17,984,994UniSTS
GeneMap99-GB4 RH Map17103.04UniSTS
D8S2278  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3p25.3-p24.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic MapXp22.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map12q14.3-q15UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q31UniSTS
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
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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


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 6 624 1951 465 2270 7306 6472 53 3733 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_017111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001281786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_148918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005256767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC127537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC240249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF017064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF017065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU185281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM792235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB451683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L11931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L23928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC784094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y14485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y14486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y14488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y14489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y14490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y14492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000316694   ⟹   ENSP00000318868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,327,873 - 18,363,550 (-)Ensembl
Ensembl Acc Id: ENST00000352886   ⟹   ENSP00000345881
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,327,860 - 18,363,563 (-)Ensembl
Ensembl Acc Id: ENST00000354098   ⟹   ENSP00000318805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,328,528 - 18,363,451 (-)Ensembl
Ensembl Acc Id: ENST00000395682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,353,510 - 18,363,518 (-)Ensembl
Ensembl Acc Id: ENST00000395684
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,327,873 - 18,341,655 (-)Ensembl
Ensembl Acc Id: ENST00000579558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,340,405 - 18,363,501 (-)Ensembl
Ensembl Acc Id: ENST00000580002   ⟹   ENSP00000462043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,328,470 - 18,363,495 (-)Ensembl
Ensembl Acc Id: ENST00000582352
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,330,684 - 18,333,439 (-)Ensembl
Ensembl Acc Id: ENST00000582653   ⟹   ENSP00000462227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,347,514 - 18,363,346 (-)Ensembl
Ensembl Acc Id: ENST00000583780   ⟹   ENSP00000462041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,328,062 - 18,363,542 (-)Ensembl
Ensembl Acc Id: ENST00000618902   ⟹   ENSP00000477782
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,348,244 - 18,348,672 (-)Ensembl
RefSeq Acc Id: NM_001281786   ⟹   NP_001268715
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,327,873 - 18,363,550 (-)NCBI
HuRef1717,984,706 - 18,020,261 (-)NCBI
CHM1_11718,239,933 - 18,275,860 (-)NCBI
T2T-CHM13v2.01718,274,679 - 18,310,356 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004169   ⟹   NP_004160
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,327,873 - 18,363,550 (-)NCBI
GRCh371718,231,187 - 18,266,856 (-)ENTREZGENE
GRCh371718,231,187 - 18,266,856 (-)NCBI
Build 361718,171,912 - 18,207,581 (-)NCBI Archive
HuRef1717,984,706 - 18,020,261 (-)NCBI
CHM1_11718,239,933 - 18,275,860 (-)NCBI
T2T-CHM13v2.01718,274,679 - 18,310,356 (-)NCBI
Sequence:
RefSeq Acc Id: NM_148918   ⟹   NP_683718
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,327,873 - 18,363,550 (-)NCBI
GRCh371718,231,187 - 18,266,856 (-)ENTREZGENE
GRCh371718,231,187 - 18,266,856 (-)NCBI
Build 361718,171,912 - 18,207,581 (-)NCBI Archive
HuRef1717,984,706 - 18,020,261 (-)NCBI
CHM1_11718,239,933 - 18,275,860 (-)NCBI
T2T-CHM13v2.01718,274,679 - 18,310,356 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005256767   ⟹   XP_005256824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,327,873 - 18,363,550 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523992   ⟹   XP_011522294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,327,873 - 18,363,550 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024957   ⟹   XP_016880446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,327,873 - 18,363,550 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024958   ⟹   XP_016880447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,327,873 - 18,363,550 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024450887   ⟹   XP_024306655
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,327,873 - 18,363,550 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047436545   ⟹   XP_047292501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,327,873 - 18,363,550 (-)NCBI
RefSeq Acc Id: XM_054316934   ⟹   XP_054172909
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01718,274,679 - 18,310,356 (-)NCBI
RefSeq Acc Id: XM_054316935   ⟹   XP_054172910
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01718,274,679 - 18,310,332 (-)NCBI
RefSeq Acc Id: XM_054316936   ⟹   XP_054172911
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01718,274,679 - 18,310,356 (-)NCBI
RefSeq Acc Id: XM_054316937   ⟹   XP_054172912
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01718,274,679 - 18,310,302 (-)NCBI
RefSeq Acc Id: XM_054316938   ⟹   XP_054172913
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01718,274,679 - 18,310,356 (-)NCBI
RefSeq Acc Id: XM_054316939   ⟹   XP_054172914
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01718,274,679 - 18,310,356 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001268715 (Get FASTA)   NCBI Sequence Viewer  
  NP_004160 (Get FASTA)   NCBI Sequence Viewer  
  NP_683718 (Get FASTA)   NCBI Sequence Viewer  
  XP_005256824 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522294 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880446 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880447 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306655 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292501 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172909 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172910 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172911 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172912 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172913 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172914 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188074 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188075 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188076 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188077 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188078 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188079 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36018 (Get FASTA)   NCBI Sequence Viewer  
  AAA36019 (Get FASTA)   NCBI Sequence Viewer  
  AAA36020 (Get FASTA)   NCBI Sequence Viewer  
  AAA63257 (Get FASTA)   NCBI Sequence Viewer  
  AAC39726 (Get FASTA)   NCBI Sequence Viewer  
  AAH07979 (Get FASTA)   NCBI Sequence Viewer  
  AAH22874 (Get FASTA)   NCBI Sequence Viewer  
  AAH38598 (Get FASTA)   NCBI Sequence Viewer  
  BAD97272 (Get FASTA)   NCBI Sequence Viewer  
  BAG60641 (Get FASTA)   NCBI Sequence Viewer  
  BAG64027 (Get FASTA)   NCBI Sequence Viewer  
  CAB54838 (Get FASTA)   NCBI Sequence Viewer  
  CAB54839 (Get FASTA)   NCBI Sequence Viewer  
  CAB54841 (Get FASTA)   NCBI Sequence Viewer  
  CAB54842 (Get FASTA)   NCBI Sequence Viewer  
  CAB54843 (Get FASTA)   NCBI Sequence Viewer  
  CAB54844 (Get FASTA)   NCBI Sequence Viewer  
  EAW55637 (Get FASTA)   NCBI Sequence Viewer  
  EAW55638 (Get FASTA)   NCBI Sequence Viewer  
  EAW55639 (Get FASTA)   NCBI Sequence Viewer  
  EAW55640 (Get FASTA)   NCBI Sequence Viewer  
  EAW55641 (Get FASTA)   NCBI Sequence Viewer  
  EAW55642 (Get FASTA)   NCBI Sequence Viewer  
  EAW55643 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000318805
  ENSP00000318805.3
  ENSP00000318868
  ENSP00000318868.3
  ENSP00000462041
  ENSP00000462041.2
  ENSP00000462043.1
  ENSP00000462227.1
  ENSP00000492715.2
  ENSP00000518786.1
  ENSP00000518787.1
  ENSP00000518788.1
  ENSP00000518789.1
GenBank Protein P34896 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_683718   ⟸   NM_148918
- Peptide Label: isoform 2
- UniProtKB: Q53ET7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004160   ⟸   NM_004169
- Peptide Label: isoform 1
- UniProtKB: Q9UMD1 (UniProtKB/Swiss-Prot),   Q96HY0 (UniProtKB/Swiss-Prot),   D3DXD0 (UniProtKB/Swiss-Prot),   B4DPM9 (UniProtKB/Swiss-Prot),   Q9UMD2 (UniProtKB/Swiss-Prot),   P34896 (UniProtKB/Swiss-Prot),   Q53ET7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005256824   ⟸   XM_005256767
- Peptide Label: isoform X1
- UniProtKB: Q9UMD1 (UniProtKB/Swiss-Prot),   Q96HY0 (UniProtKB/Swiss-Prot),   D3DXD0 (UniProtKB/Swiss-Prot),   B4DPM9 (UniProtKB/Swiss-Prot),   Q9UMD2 (UniProtKB/Swiss-Prot),   P34896 (UniProtKB/Swiss-Prot),   Q53ET7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001268715   ⟸   NM_001281786
- Peptide Label: isoform 3
- UniProtKB: P34896 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011522294   ⟸   XM_011523992
- Peptide Label: isoform X3
- UniProtKB: Q53ET7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016880446   ⟸   XM_017024957
- Peptide Label: isoform X1
- UniProtKB: Q9UMD1 (UniProtKB/Swiss-Prot),   Q96HY0 (UniProtKB/Swiss-Prot),   D3DXD0 (UniProtKB/Swiss-Prot),   B4DPM9 (UniProtKB/Swiss-Prot),   Q9UMD2 (UniProtKB/Swiss-Prot),   P34896 (UniProtKB/Swiss-Prot),   Q53ET7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016880447   ⟸   XM_017024958
- Peptide Label: isoform X2
- UniProtKB: Q53ET7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024306655   ⟸   XM_024450887
- Peptide Label: isoform X3
- UniProtKB: Q53ET7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000462043   ⟸   ENST00000580002
Ensembl Acc Id: ENSP00000462227   ⟸   ENST00000582653
Ensembl Acc Id: ENSP00000462041   ⟸   ENST00000583780
Ensembl Acc Id: ENSP00000345881   ⟸   ENST00000352886
Ensembl Acc Id: ENSP00000318805   ⟸   ENST00000354098
Ensembl Acc Id: ENSP00000477782   ⟸   ENST00000618902
Ensembl Acc Id: ENSP00000318868   ⟸   ENST00000316694
RefSeq Acc Id: XP_047292501   ⟸   XM_047436545
- Peptide Label: isoform X2
- UniProtKB: Q53ET7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172913   ⟸   XM_054316938
- Peptide Label: isoform X3
- UniProtKB: Q53ET7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172914   ⟸   XM_054316939
- Peptide Label: isoform X3
- UniProtKB: Q53ET7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172911   ⟸   XM_054316936
- Peptide Label: isoform X2
- UniProtKB: Q53ET7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172909   ⟸   XM_054316934
- Peptide Label: isoform X1
- UniProtKB: Q9UMD1 (UniProtKB/Swiss-Prot),   Q96HY0 (UniProtKB/Swiss-Prot),   P34896 (UniProtKB/Swiss-Prot),   D3DXD0 (UniProtKB/Swiss-Prot),   B4DPM9 (UniProtKB/Swiss-Prot),   Q9UMD2 (UniProtKB/Swiss-Prot),   Q53ET7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172910   ⟸   XM_054316935
- Peptide Label: isoform X1
- UniProtKB: Q9UMD1 (UniProtKB/Swiss-Prot),   Q96HY0 (UniProtKB/Swiss-Prot),   P34896 (UniProtKB/Swiss-Prot),   D3DXD0 (UniProtKB/Swiss-Prot),   B4DPM9 (UniProtKB/Swiss-Prot),   Q9UMD2 (UniProtKB/Swiss-Prot),   Q53ET7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172912   ⟸   XM_054316937
- Peptide Label: isoform X2
- UniProtKB: Q53ET7 (UniProtKB/TrEMBL)
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P34896-F1-model_v2 AlphaFold P34896 1-483 view protein structure

Promoters
RGD ID:6794530
Promoter ID:HG_KWN:25263
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000352886,   ENST00000395682,   NM_004169,   NM_148918,   UC002GTD.1,   UC010CQB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361718,207,309 - 18,207,809 (-)MPROMDB
RGD ID:7234213
Promoter ID:EPDNEW_H22853
Type:initiation region
Name:SHMT1_2
Description:serine hydroxymethyltransferase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22854  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,363,413 - 18,363,473EPDNEW
RGD ID:7234217
Promoter ID:EPDNEW_H22854
Type:initiation region
Name:SHMT1_1
Description:serine hydroxymethyltransferase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22853  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,363,531 - 18,363,591EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10850 AgrOrtholog
COSMIC SHMT1 COSMIC
Ensembl Genes ENSG00000176974 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000284320 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000316694 ENTREZGENE
  ENST00000316694.8 UniProtKB/Swiss-Prot
  ENST00000354098 ENTREZGENE
  ENST00000354098.7 UniProtKB/Swiss-Prot
  ENST00000580002.5 UniProtKB/TrEMBL
  ENST00000582653.1 UniProtKB/TrEMBL
  ENST00000583780 ENTREZGENE
  ENST00000583780.2 UniProtKB/Swiss-Prot
  ENST00000640392.2 UniProtKB/Swiss-Prot
  ENST00000711529.1 UniProtKB/Swiss-Prot
  ENST00000711530.1 UniProtKB/TrEMBL
  ENST00000711531.1 UniProtKB/Swiss-Prot
  ENST00000711534.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.640.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.1150.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000176974 GTEx
  ENSG00000284320 GTEx
HGNC ID HGNC:10850 ENTREZGENE
Human Proteome Map SHMT1 Human Proteome Map
InterPro Josephin UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase_dom1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase_major UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser_HO-MeTrfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser_HO-MeTrfase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser_HO-MeTrfase_PLP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SHMT-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6470 UniProtKB/Swiss-Prot
NCBI Gene 6470 ENTREZGENE
OMIM 182144 OMIM
PANTHER PTHR11680 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SERINE HYDROXYMETHYLTRANSFERASE, CYTOSOLIC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SHMT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35753 PharmGKB, RGD
PIRSF SHMT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE JOSEPHIN UniProtKB/TrEMBL
  SHMT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53383 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DPM9 ENTREZGENE
  D3DXD0 ENTREZGENE
  GLYC_HUMAN UniProtKB/Swiss-Prot
  J3KRK5_HUMAN UniProtKB/TrEMBL
  J3KRZ5_HUMAN UniProtKB/TrEMBL
  P34896 ENTREZGENE
  Q53ET7 ENTREZGENE, UniProtKB/TrEMBL
  Q96HY0 ENTREZGENE
  Q9UMD1 ENTREZGENE
  Q9UMD2 ENTREZGENE
UniProt Secondary B4DPM9 UniProtKB/Swiss-Prot
  D3DXD0 UniProtKB/Swiss-Prot
  Q96HY0 UniProtKB/Swiss-Prot
  Q9UMD1 UniProtKB/Swiss-Prot
  Q9UMD2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-12 SHMT1  serine hydroxymethyltransferase 1  SHMT1  serine hydroxymethyltransferase 1 (soluble)  Symbol and/or name change 5135510 APPROVED