OSTM1 (osteoclastogenesis associated transmembrane protein 1) - Rat Genome Database
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Gene: OSTM1 (osteoclastogenesis associated transmembrane protein 1) Homo sapiens
Analyze
Symbol: OSTM1
Name: osteoclastogenesis associated transmembrane protein 1
RGD ID: 1345018
HGNC Page HGNC
Description: Predicted to be involved in ion transmembrane transport. Predicted to localize to lysosomal membrane. Implicated in autosomal recessive osteopetrosis 5.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: chloride channel 7 beta subunit; CLCN7 accessory beta subunit; GAIP-interacting protein N terminus; GIPN; GL; grey-lethal osteopetrosis; HSPC019; OPTB5; osteopetrosis associated transmembrane protein 1; osteopetrosis-associated transmembrane protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl6108,041,409 - 108,165,854 (-)EnsemblGRCh38hg38GRCh38
GRCh386108,041,409 - 108,074,741 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh376108,362,613 - 108,395,941 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366108,469,306 - 108,502,634 (-)NCBINCBI36hg18NCBI36
Build 346108,469,305 - 108,502,634NCBI
Celera6109,109,095 - 109,142,438 (-)NCBI
Cytogenetic Map6q21NCBI
HuRef6105,930,856 - 105,964,198 (-)NCBIHuRef
CHM1_16108,625,219 - 108,658,570 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:11042152   PMID:12079282   PMID:12477932   PMID:12627228   PMID:12826607   PMID:12975309   PMID:14702039   PMID:15108279   PMID:15177004   PMID:15489334   PMID:16303743   PMID:16525474  
PMID:17922613   PMID:17985267   PMID:18296023   PMID:18978678   PMID:19322201   PMID:19453261   PMID:19507210   PMID:21527911   PMID:21873635   PMID:22990118   PMID:23685543   PMID:23983121  
PMID:24719316   PMID:25359771   PMID:26186194   PMID:26496610   PMID:26598607   PMID:28514442   PMID:28612835   PMID:29297601   PMID:32188736   PMID:32877691  


Genomics

Comparative Map Data
OSTM1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl6108,041,409 - 108,165,854 (-)EnsemblGRCh38hg38GRCh38
GRCh386108,041,409 - 108,074,741 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh376108,362,613 - 108,395,941 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366108,469,306 - 108,502,634 (-)NCBINCBI36hg18NCBI36
Build 346108,469,305 - 108,502,634NCBI
Celera6109,109,095 - 109,142,438 (-)NCBI
Cytogenetic Map6q21NCBI
HuRef6105,930,856 - 105,964,198 (-)NCBIHuRef
CHM1_16108,625,219 - 108,658,570 (-)NCBICHM1_1
Ostm1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391042,554,912 - 42,578,458 (+)NCBIGRCm39mm39
GRCm381042,678,916 - 42,702,462 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1042,583,822 - 42,702,459 (+)EnsemblGRCm38mm10GRCm38
MGSCv371042,398,723 - 42,422,261 (+)NCBIGRCm37mm9NCBIm37
MGSCv361042,367,332 - 42,390,870 (+)NCBImm8
Celera1043,546,113 - 43,569,890 (+)NCBICelera
Cytogenetic Map10B2NCBI
cM Map1022.89NCBI
Ostm1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.02047,394,979 - 47,430,304 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2047,395,014 - 47,430,284 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02049,062,739 - 49,092,292 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera2053,793,629 - 53,820,512 (-)NCBICelera
Cytogenetic Map20q13NCBI
Ostm1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541133,171,264 - 33,205,486 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541133,168,868 - 33,205,452 (-)NCBIChiLan1.0ChiLan1.0
OSTM1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.16109,705,522 - 109,738,691 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6109,705,519 - 109,738,691 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v06105,842,261 - 105,874,429 (-)NCBIMhudiblu_PPA_v0panPan3
OSTM1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1265,087,243 - 65,120,832 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11265,085,456 - 65,120,827 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Ostm1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365644,301,569 - 4,332,070 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OSTM1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl174,139,330 - 74,181,084 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1174,139,326 - 74,181,165 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2183,410,028 - 83,451,815 (-)NCBISscrofa10.2Sscrofa10.2susScr3
OSTM1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11365,774,825 - 65,812,606 (+)NCBI
ChlSab1.1 Ensembl1365,774,844 - 65,809,272 (+)Ensembl
Ostm1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462478014,212,803 - 14,247,818 (+)NCBI

Position Markers
D6S1113E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,364,874 - 108,364,993UniSTSGRCh37
Build 366108,471,567 - 108,471,686RGDNCBI36
Celera6109,111,356 - 109,111,475RGD
Cytogenetic Map6q21UniSTS
HuRef6105,933,117 - 105,933,236UniSTS
GeneMap99-GB4 RH Map6459.92UniSTS
NCBI RH Map61406.9UniSTS
STS-H01923  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,362,632 - 108,362,757UniSTSGRCh37
Build 366108,469,325 - 108,469,450RGDNCBI36
Celera6109,109,114 - 109,109,239RGD
Cytogenetic Map6q21UniSTS
HuRef6105,930,875 - 105,931,000UniSTS
GeneMap99-GB4 RH Map6466.71UniSTS
ECD01100  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,368,992 - 108,369,869UniSTSGRCh37
Build 366108,475,685 - 108,476,562RGDNCBI36
Celera6109,115,474 - 109,116,351RGD
Cytogenetic Map6q21UniSTS
HuRef6105,937,235 - 105,938,112UniSTS
ECD01829  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,385,247 - 108,386,098UniSTSGRCh37
Build 366108,491,940 - 108,492,791RGDNCBI36
Celera6109,131,743 - 109,132,594RGD
Cytogenetic Map6q21UniSTS
HuRef6105,953,504 - 105,954,355UniSTS
ECD03339  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,375,710 - 108,376,508UniSTSGRCh37
Build 366108,482,403 - 108,483,201RGDNCBI36
Celera6109,122,192 - 109,122,990RGD
Cytogenetic Map6q21UniSTS
HuRef6105,943,953 - 105,944,751UniSTS
ECD04633  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,378,476 - 108,379,234UniSTSGRCh37
Build 366108,485,169 - 108,485,927RGDNCBI36
Celera6109,124,958 - 109,125,716RGD
Cytogenetic Map6q21UniSTS
HuRef6105,946,719 - 105,947,477UniSTS
ECD07814  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,392,844 - 108,393,515UniSTSGRCh37
Build 366108,499,537 - 108,500,208RGDNCBI36
Celera6109,139,340 - 109,140,011RGD
Cytogenetic Map6q21UniSTS
HuRef6105,961,101 - 105,961,772UniSTS
ECD08327  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,363,932 - 108,364,589UniSTSGRCh37
Build 366108,470,625 - 108,471,282RGDNCBI36
Celera6109,110,414 - 109,111,071RGD
Cytogenetic Map6q21UniSTS
HuRef6105,932,175 - 105,932,832UniSTS
ECD09645  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,371,882 - 108,372,505UniSTSGRCh37
Build 366108,478,575 - 108,479,198RGDNCBI36
Celera6109,118,364 - 109,118,987RGD
Cytogenetic Map6q21UniSTS
HuRef6105,940,125 - 105,940,748UniSTS
ECD09912  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,380,121 - 108,380,737UniSTSGRCh37
Build 366108,486,814 - 108,487,430RGDNCBI36
Celera6109,126,603 - 109,127,219RGD
Cytogenetic Map6q21UniSTS
HuRef6105,948,364 - 105,948,980UniSTS
ECD10158  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,376,689 - 108,377,298UniSTSGRCh37
Build 366108,483,382 - 108,483,991RGDNCBI36
Celera6109,123,171 - 109,123,780RGD
Cytogenetic Map6q21UniSTS
HuRef6105,944,932 - 105,945,541UniSTS
ECD10228  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,365,438 - 108,366,045UniSTSGRCh37
Build 366108,472,131 - 108,472,738RGDNCBI36
Celera6109,111,920 - 109,112,527RGD
Cytogenetic Map6q21UniSTS
HuRef6105,933,681 - 105,934,288UniSTS
ECD10489  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,370,335 - 108,370,935UniSTSGRCh37
Build 366108,477,028 - 108,477,628RGDNCBI36
Celera6109,116,817 - 109,117,417RGD
Cytogenetic Map6q21UniSTS
HuRef6105,938,578 - 105,939,178UniSTS
ECD12472  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,386,959 - 108,387,501UniSTSGRCh37
Build 366108,493,652 - 108,494,194RGDNCBI36
Celera6109,133,455 - 109,133,997RGD
Cytogenetic Map6q21UniSTS
HuRef6105,955,216 - 105,955,758UniSTS
ECD13167  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,364,730 - 108,365,254UniSTSGRCh37
Build 366108,471,423 - 108,471,947RGDNCBI36
Celera6109,111,212 - 109,111,736RGD
Cytogenetic Map6q21UniSTS
HuRef6105,932,973 - 105,933,497UniSTS
ECD14624  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,372,829 - 108,373,318UniSTSGRCh37
Build 366108,479,522 - 108,480,011RGDNCBI36
Celera6109,119,311 - 109,119,800RGD
Cytogenetic Map6q21UniSTS
HuRef6105,941,072 - 105,941,561UniSTS
ECD15679  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,390,770 - 108,391,234UniSTSGRCh37
Build 366108,497,463 - 108,497,927RGDNCBI36
Celera6109,137,266 - 109,137,730RGD
Cytogenetic Map6q21UniSTS
HuRef6105,959,027 - 105,959,491UniSTS
ECD17233  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,397,524 - 108,397,931UniSTSGRCh37
Build 366108,504,217 - 108,504,624RGDNCBI36
Celera6109,144,021 - 109,144,428RGD
Cytogenetic Map6q21UniSTS
HuRef6105,965,781 - 105,966,188UniSTS
ECD17325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,384,511 - 108,384,914UniSTSGRCh37
Build 366108,491,204 - 108,491,607RGDNCBI36
Celera6109,131,007 - 109,131,410RGD
Cytogenetic Map6q21UniSTS
HuRef6105,952,768 - 105,953,171UniSTS
ECD17646  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,367,876 - 108,368,265UniSTSGRCh37
Build 366108,474,569 - 108,474,958RGDNCBI36
Celera6109,114,358 - 109,114,747RGD
Cytogenetic Map6q21UniSTS
HuRef6105,936,119 - 105,936,508UniSTS
ECD18094  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,394,336 - 108,394,709UniSTSGRCh37
Build 366108,501,029 - 108,501,402RGDNCBI36
Celera6109,140,833 - 109,141,206RGD
Cytogenetic Map6q21UniSTS
HuRef6105,962,593 - 105,962,966UniSTS
ECD18190  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,375,054 - 108,375,423UniSTSGRCh37
Build 366108,481,747 - 108,482,116RGDNCBI36
Celera6109,121,536 - 109,121,905RGD
Cytogenetic Map6q21UniSTS
HuRef6105,943,297 - 105,943,666UniSTS
ECD18576  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,381,213 - 108,381,567UniSTSGRCh37
Build 366108,487,906 - 108,488,260RGDNCBI36
Celera6109,127,695 - 109,128,049RGD
Cytogenetic Map6q21UniSTS
HuRef6105,949,456 - 105,949,810UniSTS
ECD18745  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,366,731 - 108,367,079UniSTSGRCh37
Build 366108,473,424 - 108,473,772RGDNCBI36
Celera6109,113,213 - 109,113,561RGD
Cytogenetic Map6q21UniSTS
HuRef6105,934,974 - 105,935,322UniSTS
ECD19075  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,379,350 - 108,379,685UniSTSGRCh37
Build 366108,486,043 - 108,486,378RGDNCBI36
Celera6109,125,832 - 109,126,167RGD
Cytogenetic Map6q21UniSTS
HuRef6105,947,593 - 105,947,928UniSTS
ECD19076  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,396,119 - 108,396,454UniSTSGRCh37
Build 366108,502,812 - 108,503,147RGDNCBI36
Celera6109,142,616 - 109,142,951RGD
Cytogenetic Map6q21UniSTS
HuRef6105,964,376 - 105,964,711UniSTS
ECD19219  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,395,403 - 108,395,732UniSTSGRCh37
Build 366108,502,096 - 108,502,425RGDNCBI36
Celera6109,141,900 - 109,142,229RGD
Cytogenetic Map6q21UniSTS
HuRef6105,963,660 - 105,963,989UniSTS
ECD19750  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,362,570 - 108,362,880UniSTSGRCh37
Build 366108,469,263 - 108,469,573RGDNCBI36
Celera6109,109,052 - 109,109,362RGD
Cytogenetic Map6q21UniSTS
HuRef6105,930,813 - 105,931,123UniSTS
ECD19830  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,382,359 - 108,382,666UniSTSGRCh37
Build 366108,489,052 - 108,489,359RGDNCBI36
Celera6109,128,841 - 109,129,148RGD
Cytogenetic Map6q21UniSTS
HuRef6105,950,602 - 105,950,909UniSTS
ECD21333  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,397,058 - 108,397,310UniSTSGRCh37
Build 366108,503,751 - 108,504,003RGDNCBI36
Celera6109,143,555 - 109,143,807RGD
Cytogenetic Map6q21UniSTS
HuRef6105,965,315 - 105,965,567UniSTS
ECD22421  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,395,092 - 108,395,311UniSTSGRCh37
Build 366108,501,785 - 108,502,004RGDNCBI36
Celera6109,141,589 - 109,141,808RGD
Cytogenetic Map6q21UniSTS
HuRef6105,963,349 - 105,963,568UniSTS
ECD23249  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,371,097 - 108,371,291UniSTSGRCh37
Build 366108,477,790 - 108,477,984RGDNCBI36
Celera6109,117,579 - 109,117,773RGD
Cytogenetic Map6q21UniSTS
HuRef6105,939,340 - 105,939,534UniSTS
ECD23424  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,391,548 - 108,391,737UniSTSGRCh37
Build 366108,498,241 - 108,498,430RGDNCBI36
Celera6109,138,044 - 109,138,233RGD
Cytogenetic Map6q21UniSTS
HuRef6105,959,805 - 105,959,994UniSTS
ECD24330  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,363,195 - 108,363,336UniSTSGRCh37
Build 366108,469,888 - 108,470,029RGDNCBI36
Celera6109,109,677 - 109,109,818RGD
Cytogenetic Map6q21UniSTS
HuRef6105,931,438 - 105,931,579UniSTS
REN49189  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,362,158 - 108,362,388UniSTSGRCh37
Build 366108,468,851 - 108,469,081RGDNCBI36
Celera6109,108,640 - 109,108,870RGD
Cytogenetic Map6q21UniSTS
HuRef6105,930,401 - 105,930,631UniSTS
REN49190  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,362,357 - 108,362,604UniSTSGRCh37
Build 366108,469,050 - 108,469,297RGDNCBI36
Celera6109,108,839 - 109,109,086RGD
Cytogenetic Map6q21UniSTS
HuRef6105,930,600 - 105,930,847UniSTS
REN49191  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,362,563 - 108,362,791UniSTSGRCh37
Build 366108,469,256 - 108,469,484RGDNCBI36
Celera6109,109,045 - 109,109,273RGD
Cytogenetic Map6q21UniSTS
HuRef6105,930,806 - 105,931,034UniSTS
REN49192  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,362,762 - 108,363,009UniSTSGRCh37
Build 366108,469,455 - 108,469,702RGDNCBI36
Celera6109,109,244 - 109,109,491RGD
Cytogenetic Map6q21UniSTS
HuRef6105,931,005 - 105,931,252UniSTS
REN49193  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,362,986 - 108,363,250UniSTSGRCh37
Build 366108,469,679 - 108,469,943RGDNCBI36
Celera6109,109,468 - 109,109,732RGD
Cytogenetic Map6q21UniSTS
HuRef6105,931,229 - 105,931,493UniSTS
REN49194  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,363,147 - 108,363,384UniSTSGRCh37
Build 366108,469,840 - 108,470,077RGDNCBI36
Celera6109,109,629 - 109,109,866RGD
Cytogenetic Map6q21UniSTS
HuRef6105,931,390 - 105,931,627UniSTS
REN49195  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,363,359 - 108,363,611UniSTSGRCh37
Build 366108,470,052 - 108,470,304RGDNCBI36
Celera6109,109,841 - 109,110,093RGD
Cytogenetic Map6q21UniSTS
HuRef6105,931,602 - 105,931,854UniSTS
REN49196  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,363,580 - 108,363,824UniSTSGRCh37
Build 366108,470,273 - 108,470,517RGDNCBI36
Celera6109,110,062 - 109,110,306RGD
Cytogenetic Map6q21UniSTS
HuRef6105,931,823 - 105,932,067UniSTS
REN49197  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,363,877 - 108,364,112UniSTSGRCh37
Build 366108,470,570 - 108,470,805RGDNCBI36
Celera6109,110,359 - 109,110,594RGD
Cytogenetic Map6q21UniSTS
HuRef6105,932,120 - 105,932,355UniSTS
REN49198  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,364,006 - 108,364,238UniSTSGRCh37
Build 366108,470,699 - 108,470,931RGDNCBI36
Celera6109,110,488 - 109,110,720RGD
Cytogenetic Map6q21UniSTS
HuRef6105,932,249 - 105,932,481UniSTS
REN49199  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,364,379 - 108,364,612UniSTSGRCh37
Build 366108,471,072 - 108,471,305RGDNCBI36
Celera6109,110,861 - 109,111,094RGD
Cytogenetic Map6q21UniSTS
HuRef6105,932,622 - 105,932,855UniSTS
REN49200  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,364,567 - 108,364,836UniSTSGRCh37
Build 366108,471,260 - 108,471,529RGDNCBI36
Celera6109,111,049 - 109,111,318RGD
Cytogenetic Map6q21UniSTS
HuRef6105,932,810 - 105,933,079UniSTS
REN49201  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,364,813 - 108,365,052UniSTSGRCh37
Build 366108,471,506 - 108,471,745RGDNCBI36
Celera6109,111,295 - 109,111,534RGD
Cytogenetic Map6q21UniSTS
HuRef6105,933,056 - 105,933,295UniSTS
REN49202  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,365,002 - 108,365,258UniSTSGRCh37
Build 366108,471,695 - 108,471,951RGDNCBI36
Celera6109,111,484 - 109,111,740RGD
Cytogenetic Map6q21UniSTS
HuRef6105,933,245 - 105,933,501UniSTS
REN49203  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,365,226 - 108,365,461UniSTSGRCh37
Build 366108,471,919 - 108,472,154RGDNCBI36
Celera6109,111,708 - 109,111,943RGD
Cytogenetic Map6q21UniSTS
HuRef6105,933,469 - 105,933,704UniSTS
REN49204  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,365,438 - 108,365,706UniSTSGRCh37
Build 366108,472,131 - 108,472,399RGDNCBI36
Celera6109,111,920 - 109,112,188RGD
Cytogenetic Map6q21UniSTS
HuRef6105,933,681 - 105,933,949UniSTS
REN49205  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,365,679 - 108,365,932UniSTSGRCh37
Build 366108,472,372 - 108,472,625RGDNCBI36
Celera6109,112,161 - 109,112,414RGD
Cytogenetic Map6q21UniSTS
HuRef6105,933,922 - 105,934,175UniSTS
REN49206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,365,924 - 108,366,171UniSTSGRCh37
Build 366108,472,617 - 108,472,864RGDNCBI36
Celera6109,112,406 - 109,112,653RGD
Cytogenetic Map6q21UniSTS
HuRef6105,934,167 - 105,934,414UniSTS
REN49207  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,366,149 - 108,366,374UniSTSGRCh37
Build 366108,472,842 - 108,473,067RGDNCBI36
Celera6109,112,631 - 109,112,856RGD
Cytogenetic Map6q21UniSTS
HuRef6105,934,392 - 105,934,617UniSTS
REN49208  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,366,345 - 108,366,600UniSTSGRCh37
Build 366108,473,038 - 108,473,293RGDNCBI36
Celera6109,112,827 - 109,113,082RGD
Cytogenetic Map6q21UniSTS
HuRef6105,934,588 - 105,934,843UniSTS
REN49209  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,366,577 - 108,366,823UniSTSGRCh37
Build 366108,473,270 - 108,473,516RGDNCBI36
Celera6109,113,059 - 109,113,305RGD
Cytogenetic Map6q21UniSTS
HuRef6105,934,820 - 105,935,066UniSTS
REN49210  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,366,790 - 108,367,022UniSTSGRCh37
GRCh376108,366,724 - 108,367,022UniSTSGRCh37
Build 366108,473,417 - 108,473,715RGDNCBI36
Celera6109,113,206 - 109,113,504RGD
Celera6109,113,272 - 109,113,504UniSTS
Cytogenetic Map6q21UniSTS
HuRef6105,934,967 - 105,935,265UniSTS
HuRef6105,935,033 - 105,935,265UniSTS
REN49211  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,366,999 - 108,367,248UniSTSGRCh37
Build 366108,473,692 - 108,473,941RGDNCBI36
Celera6109,113,481 - 109,113,730RGD
Cytogenetic Map6q21UniSTS
HuRef6105,935,242 - 105,935,491UniSTS
REN49212  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,367,048 - 108,367,281UniSTSGRCh37
Build 366108,473,741 - 108,473,974RGDNCBI36
Celera6109,113,530 - 109,113,763RGD
Cytogenetic Map6q21UniSTS
HuRef6105,935,291 - 105,935,524UniSTS
REN49213  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,367,846 - 108,368,089UniSTSGRCh37
Build 366108,474,539 - 108,474,782RGDNCBI36
Celera6109,114,328 - 109,114,571RGD
Cytogenetic Map6q21UniSTS
HuRef6105,936,089 - 105,936,332UniSTS
REN49214  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,367,995 - 108,368,244UniSTSGRCh37
Build 366108,474,688 - 108,474,937RGDNCBI36
Celera6109,114,477 - 109,114,726RGD
Cytogenetic Map6q21UniSTS
HuRef6105,936,238 - 105,936,487UniSTS
REN49215  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,368,225 - 108,368,479UniSTSGRCh37
Build 366108,474,918 - 108,475,172RGDNCBI36
Celera6109,114,707 - 109,114,961RGD
Cytogenetic Map6q21UniSTS
HuRef6105,936,468 - 105,936,722UniSTS
REN49216  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,368,451 - 108,368,687UniSTSGRCh37
Build 366108,475,144 - 108,475,380RGDNCBI36
Celera6109,114,933 - 109,115,169RGD
Cytogenetic Map6q21UniSTS
HuRef6105,936,694 - 105,936,930UniSTS
REN49217  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,368,673 - 108,368,926UniSTSGRCh37
Build 366108,475,366 - 108,475,619RGDNCBI36
Celera6109,115,155 - 109,115,408RGD
Cytogenetic Map6q21UniSTS
HuRef6105,936,916 - 105,937,169UniSTS
REN49218  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,368,918 - 108,369,181UniSTSGRCh37
Build 366108,475,611 - 108,475,874RGDNCBI36
Celera6109,115,400 - 109,115,663RGD
Cytogenetic Map6q21UniSTS
HuRef6105,937,161 - 105,937,424UniSTS
REN49219  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,369,158 - 108,369,425UniSTSGRCh37
Build 366108,475,851 - 108,476,118RGDNCBI36
Celera6109,115,640 - 109,115,907RGD
Cytogenetic Map6q21UniSTS
HuRef6105,937,401 - 105,937,668UniSTS
REN49220  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,369,400 - 108,369,646UniSTSGRCh37
Build 366108,476,093 - 108,476,339RGDNCBI36
Celera6109,115,882 - 109,116,128RGD
Cytogenetic Map6q21UniSTS
HuRef6105,937,643 - 105,937,889UniSTS
REN49221  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,369,643 - 108,369,893UniSTSGRCh37
Build 366108,476,336 - 108,476,586RGDNCBI36
Celera6109,116,125 - 109,116,375RGD
Cytogenetic Map6q21UniSTS
HuRef6105,937,886 - 105,938,136UniSTS
REN49222  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,369,706 - 108,369,939UniSTSGRCh37
Build 366108,476,399 - 108,476,632RGDNCBI36
Celera6109,116,188 - 109,116,421RGD
Cytogenetic Map6q21UniSTS
HuRef6105,937,949 - 105,938,182UniSTS
REN49223  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,370,243 - 108,370,481UniSTSGRCh37
Build 366108,476,936 - 108,477,174RGDNCBI36
Celera6109,116,725 - 109,116,963RGD
Cytogenetic Map6q21UniSTS
HuRef6105,938,486 - 105,938,724UniSTS
REN49224  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,370,379 - 108,370,626UniSTSGRCh37
Build 366108,477,072 - 108,477,319RGDNCBI36
Celera6109,116,861 - 109,117,108RGD
Cytogenetic Map6q21UniSTS
HuRef6105,938,622 - 105,938,869UniSTS
REN49225  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,370,603 - 108,370,851UniSTSGRCh37
Build 366108,477,296 - 108,477,544RGDNCBI36
Celera6109,117,085 - 109,117,333RGD
Cytogenetic Map6q21UniSTS
HuRef6105,938,846 - 105,939,094UniSTS
REN49226  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,370,823 - 108,371,093UniSTSGRCh37
Build 366108,477,516 - 108,477,786RGDNCBI36
Celera6109,117,305 - 109,117,575RGD
Cytogenetic Map6q21UniSTS
HuRef6105,939,066 - 105,939,336UniSTS
REN49227  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,371,033 - 108,371,293UniSTSGRCh37
Build 366108,477,726 - 108,477,986RGDNCBI36
Celera6109,117,515 - 109,117,775RGD
Cytogenetic Map6q21UniSTS
HuRef6105,939,276 - 105,939,536UniSTS
REN49228  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,371,270 - 108,371,532UniSTSGRCh37
Build 366108,477,963 - 108,478,225RGDNCBI36
Celera6109,117,752 - 109,118,014RGD
Cytogenetic Map6q21UniSTS
HuRef6105,939,513 - 105,939,775UniSTS
REN49229  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,371,335 - 108,371,560UniSTSGRCh37
Build 366108,478,028 - 108,478,253RGDNCBI36
Celera6109,117,817 - 109,118,042RGD
Cytogenetic Map6q21UniSTS
HuRef6105,939,578 - 105,939,803UniSTS
REN49230  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,371,856 - 108,372,083UniSTSGRCh37
Build 366108,478,549 - 108,478,776RGDNCBI36
Celera6109,118,338 - 109,118,565RGD
Cytogenetic Map6q21UniSTS
HuRef6105,940,099 - 105,940,326UniSTS
REN49231  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,372,065 - 108,372,292UniSTSGRCh37
Build 366108,478,758 - 108,478,985RGDNCBI36
Celera6109,118,547 - 109,118,774RGD
Cytogenetic Map6q21UniSTS
HuRef6105,940,308 - 105,940,535UniSTS
REN49232  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,372,261 - 108,372,506UniSTSGRCh37
Build 366108,478,954 - 108,479,199RGDNCBI36
Celera6109,118,743 - 109,118,988RGD
Cytogenetic Map6q21UniSTS
HuRef6105,940,504 - 105,940,749UniSTS
REN49233  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,372,487 - 108,372,733UniSTSGRCh37
Build 366108,479,180 - 108,479,426RGDNCBI36
Celera6109,118,969 - 109,119,215RGD
Cytogenetic Map6q21UniSTS
HuRef6105,940,730 - 105,940,976UniSTS
REN49234  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,372,728 - 108,372,971UniSTSGRCh37
Build 366108,479,421 - 108,479,664RGDNCBI36
Celera6109,119,210 - 109,119,453RGD
Cytogenetic Map6q21UniSTS
HuRef6105,940,971 - 105,941,214UniSTS
REN49235  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,372,947 - 108,373,197UniSTSGRCh37
Build 366108,479,640 - 108,479,890RGDNCBI36
Celera6109,119,429 - 109,119,679RGD
Cytogenetic Map6q21UniSTS
HuRef6105,941,190 - 105,941,440UniSTS
REN49236  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,373,115 - 108,373,339UniSTSGRCh37
Build 366108,479,808 - 108,480,032RGDNCBI36
Celera6109,119,597 - 109,119,821RGD
Cytogenetic Map6q21UniSTS
HuRef6105,941,358 - 105,941,582UniSTS
REN49237  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,373,683 - 108,373,920UniSTSGRCh37
Build 366108,480,376 - 108,480,613RGDNCBI36
Celera6109,120,165 - 109,120,402RGD
Cytogenetic Map6q21UniSTS
HuRef6105,941,926 - 105,942,163UniSTS
REN49238  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,373,917 - 108,374,151UniSTSGRCh37
Build 366108,480,610 - 108,480,844RGDNCBI36
Celera6109,120,399 - 109,120,633RGD
Cytogenetic Map6q21UniSTS
HuRef6105,942,160 - 105,942,394UniSTS
REN49239  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,374,145 - 108,374,369UniSTSGRCh37
Build 366108,480,838 - 108,481,062RGDNCBI36
Celera6109,120,627 - 109,120,851RGD
Cytogenetic Map6q21UniSTS
HuRef6105,942,388 - 105,942,612UniSTS
REN49240  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,374,341 - 108,374,601UniSTSGRCh37
Build 366108,481,034 - 108,481,294RGDNCBI36
Celera6109,120,823 - 109,121,083RGD
Cytogenetic Map6q21UniSTS
HuRef6105,942,584 - 105,942,844UniSTS
REN49241  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,374,597 - 108,374,821UniSTSGRCh37
Build 366108,481,290 - 108,481,514RGDNCBI36
Celera6109,121,079 - 109,121,303RGD
Cytogenetic Map6q21UniSTS
HuRef6105,942,840 - 105,943,064UniSTS
REN49242  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,374,783 - 108,375,055UniSTSGRCh37
Build 366108,481,476 - 108,481,748RGDNCBI36
Celera6109,121,265 - 109,121,537RGD
Cytogenetic Map6q21UniSTS
HuRef6105,943,026 - 105,943,298UniSTS
REN49243  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,375,053 - 108,375,323UniSTSGRCh37
Build 366108,481,746 - 108,482,016RGDNCBI36
Celera6109,121,535 - 109,121,805RGD
Cytogenetic Map6q21UniSTS
HuRef6105,943,296 - 105,943,566UniSTS
REN49244  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,375,305 - 108,375,577UniSTSGRCh37
Build 366108,481,998 - 108,482,270RGDNCBI36
Celera6109,121,787 - 109,122,059RGD
Cytogenetic Map6q21UniSTS
HuRef6105,943,548 - 105,943,820UniSTS
REN49245  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,375,563 - 108,375,787UniSTSGRCh37
Build 366108,482,256 - 108,482,480RGDNCBI36
Celera6109,122,045 - 109,122,269RGD
Cytogenetic Map6q21UniSTS
HuRef6105,943,806 - 105,944,030UniSTS
REN49246  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,375,735 - 108,375,960UniSTSGRCh37
Build 366108,482,428 - 108,482,653RGDNCBI36
Celera6109,122,217 - 109,122,442RGD
Cytogenetic Map6q21UniSTS
HuRef6105,943,978 - 105,944,203UniSTS
REN49247  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,375,925 - 108,376,167UniSTSGRCh37
Build 366108,482,618 - 108,482,860RGDNCBI36
Celera6109,122,407 - 109,122,649RGD
Cytogenetic Map6q21UniSTS
HuRef6105,944,168 - 105,944,410UniSTS
REN49248  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,376,145 - 108,376,413UniSTSGRCh37
Build 366108,482,838 - 108,483,106RGDNCBI36
Celera6109,122,627 - 109,122,895RGD
Cytogenetic Map6q21UniSTS
HuRef6105,944,388 - 105,944,656UniSTS
REN49249  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,376,397 - 108,376,645UniSTSGRCh37
Build 366108,483,090 - 108,483,338RGDNCBI36
Celera6109,122,879 - 109,123,127RGD
Cytogenetic Map6q21UniSTS
HuRef6105,944,640 - 105,944,888UniSTS
REN49250  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,376,588 - 108,376,841UniSTSGRCh37
Build 366108,483,281 - 108,483,534RGDNCBI36
Celera6109,123,070 - 109,123,323RGD
Cytogenetic Map6q21UniSTS
HuRef6105,944,831 - 105,945,084UniSTS
REN49251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,376,831 - 108,377,079UniSTSGRCh37
Build 366108,483,524 - 108,483,772RGDNCBI36
Celera6109,123,313 - 109,123,561RGD
Cytogenetic Map6q21UniSTS
HuRef6105,945,074 - 105,945,322UniSTS
REN49252  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,377,056 - 108,377,300UniSTSGRCh37
Build 366108,483,749 - 108,483,993RGDNCBI36
Celera6109,123,538 - 109,123,782RGD
Cytogenetic Map6q21UniSTS
HuRef6105,945,299 - 105,945,543UniSTS
REN49253  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,377,287 - 108,377,516UniSTSGRCh37
Build 366108,483,980 - 108,484,209RGDNCBI36
Celera6109,123,769 - 109,123,998RGD
Cytogenetic Map6q21UniSTS
HuRef6105,945,530 - 105,945,759UniSTS
REN49254  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,377,493 - 108,377,738UniSTSGRCh37
Build 366108,484,186 - 108,484,431RGDNCBI36
Celera6109,123,975 - 109,124,220RGD
Cytogenetic Map6q21UniSTS
HuRef6105,945,736 - 105,945,981UniSTS
REN49255  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,377,736 - 108,377,988UniSTSGRCh37
Build 366108,484,429 - 108,484,681RGDNCBI36
Celera6109,124,218 - 109,124,470RGD
Cytogenetic Map6q21UniSTS
HuRef6105,945,979 - 105,946,231UniSTS
REN49256  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,377,931 - 108,378,173UniSTSGRCh37
Build 366108,484,624 - 108,484,866RGDNCBI36
Celera6109,124,413 - 109,124,655RGD
Cytogenetic Map6q21UniSTS
HuRef6105,946,174 - 105,946,416UniSTS
REN49257  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,378,093 - 108,378,353UniSTSGRCh37
Build 366108,484,786 - 108,485,046RGDNCBI36
Celera6109,124,575 - 109,124,835RGD
Cytogenetic Map6q21UniSTS
HuRef6105,946,336 - 105,946,596UniSTS
REN49258  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,378,334 - 108,378,596UniSTSGRCh37
Build 366108,485,027 - 108,485,289RGDNCBI36
Celera6109,124,816 - 109,125,078RGD
Cytogenetic Map6q21UniSTS
HuRef6105,946,577 - 105,946,839UniSTS
REN49259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,378,589 - 108,378,841UniSTSGRCh37
Build 366108,485,282 - 108,485,534RGDNCBI36
Celera6109,125,071 - 109,125,323RGD
Cytogenetic Map6q21UniSTS
HuRef6105,946,832 - 105,947,084UniSTS
REN49260  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,378,811 - 108,379,048UniSTSGRCh37
Build 366108,485,504 - 108,485,741RGDNCBI36
Celera6109,125,293 - 109,125,530RGD
Cytogenetic Map6q21UniSTS
HuRef6105,947,054 - 105,947,291UniSTS
REN49261  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,379,025 - 108,379,249UniSTSGRCh37
Build 366108,485,718 - 108,485,942RGDNCBI36
Celera6109,125,507 - 109,125,731RGD
Cytogenetic Map6q21UniSTS
HuRef6105,947,268 - 105,947,492UniSTS
REN49262  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,379,223 - 108,379,474UniSTSGRCh37
Build 366108,485,916 - 108,486,167RGDNCBI36
Celera6109,125,705 - 109,125,956RGD
Cytogenetic Map6q21UniSTS
HuRef6105,947,466 - 105,947,717UniSTS
REN49263  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,379,451 - 108,379,697UniSTSGRCh37
Build 366108,486,144 - 108,486,390RGDNCBI36
Celera6109,125,933 - 109,126,179RGD
Cytogenetic Map6q21UniSTS
HuRef6105,947,694 - 105,947,940UniSTS
REN49264  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,379,995 - 108,380,223UniSTSGRCh37
Build 366108,486,688 - 108,486,916RGDNCBI36
Celera6109,126,477 - 109,126,705RGD
Cytogenetic Map6q21UniSTS
HuRef6105,948,238 - 105,948,466UniSTS
REN49265  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,380,217 - 108,380,441UniSTSGRCh37
Build 366108,486,910 - 108,487,134RGDNCBI36
Celera6109,126,699 - 109,126,923RGD
Cytogenetic Map6q21UniSTS
HuRef6105,948,460 - 105,948,684UniSTS
REN49266  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,380,433 - 108,380,678UniSTSGRCh37
Build 366108,487,126 - 108,487,371RGDNCBI36
Celera6109,126,915 - 109,127,160RGD
Cytogenetic Map6q21UniSTS
HuRef6105,948,676 - 105,948,921UniSTS
REN49267  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,380,634 - 108,380,905UniSTSGRCh37
Build 366108,487,327 - 108,487,598RGDNCBI36
Celera6109,127,116 - 109,127,387RGD
Cytogenetic Map6q21UniSTS
HuRef6105,948,877 - 105,949,148UniSTS
REN49268  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,380,899 - 108,381,155UniSTSGRCh37
Build 366108,487,592 - 108,487,848RGDNCBI36
Celera6109,127,381 - 109,127,637RGD
Cytogenetic Map6q21UniSTS
HuRef6105,949,142 - 105,949,398UniSTS
REN49269  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,381,124 - 108,381,376UniSTSGRCh37
Build 366108,487,817 - 108,488,069RGDNCBI36
Celera6109,127,606 - 109,127,858RGD
Cytogenetic Map6q21UniSTS
HuRef6105,949,367 - 105,949,619UniSTS
REN49270  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,381,363 - 108,381,590UniSTSGRCh37
Build 366108,488,056 - 108,488,283RGDNCBI36
Celera6109,127,845 - 109,128,072RGD
Cytogenetic Map6q21UniSTS
HuRef6105,949,606 - 105,949,833UniSTS
REN49271  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,381,565 - 108,381,801UniSTSGRCh37
Build 366108,488,258 - 108,488,494RGDNCBI36
Celera6109,128,047 - 109,128,283RGD
Cytogenetic Map6q21UniSTS
HuRef6105,949,808 - 105,950,044UniSTS
REN49272  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,381,782 - 108,382,021UniSTSGRCh37
Build 366108,488,475 - 108,488,714RGDNCBI36
Celera6109,128,264 - 109,128,503RGD
Cytogenetic Map6q21UniSTS
HuRef6105,950,025 - 105,950,264UniSTS
REN49273  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,381,959 - 108,382,185UniSTSGRCh37
Build 366108,488,652 - 108,488,878RGDNCBI36
Celera6109,128,441 - 109,128,667RGD
Cytogenetic Map6q21UniSTS
HuRef6105,950,202 - 105,950,428UniSTS
REN49274  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,382,159 - 108,382,392UniSTSGRCh37
Build 366108,488,852 - 108,489,085RGDNCBI36
Celera6109,128,641 - 109,128,874RGD
Cytogenetic Map6q21UniSTS
HuRef6105,950,402 - 105,950,635UniSTS
REN49275  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,382,360 - 108,382,606UniSTSGRCh37
Build 366108,489,053 - 108,489,299RGDNCBI36
Celera6109,128,842 - 109,129,088RGD
Cytogenetic Map6q21UniSTS
HuRef6105,950,603 - 105,950,849UniSTS
REN49276  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,382,573 - 108,382,813UniSTSGRCh37
Build 366108,489,266 - 108,489,506RGDNCBI36
Celera6109,129,055 - 109,129,295RGD
Cytogenetic Map6q21UniSTS
HuRef6105,950,816 - 105,951,056UniSTS
REN49277  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,382,785 - 108,383,012UniSTSGRCh37
Build 366108,489,478 - 108,489,705RGDNCBI36
Celera6109,129,267 - 109,129,494RGD
Cytogenetic Map6q21UniSTS
HuRef6105,951,028 - 105,951,255UniSTS
REN49278  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,382,983 - 108,383,207UniSTSGRCh37
Build 366108,489,676 - 108,489,900RGDNCBI36
Celera6109,129,465 - 109,129,689RGD
Cytogenetic Map6q21UniSTS
HuRef6105,951,226 - 105,951,450UniSTS
REN49279  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,383,173 - 108,383,439UniSTSGRCh37
Build 366108,489,866 - 108,490,132RGDNCBI36
Celera6109,129,655 - 109,129,921RGD
Cytogenetic Map6q21UniSTS
HuRef6105,951,416 - 105,951,682UniSTS
REN49280  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,383,400 - 108,383,624UniSTSGRCh37
Build 366108,490,093 - 108,490,317RGDNCBI36
Celera6109,129,882 - 109,130,106RGD
Cytogenetic Map6q21UniSTS
HuRef6105,951,643 - 105,951,867UniSTS
REN49281  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,383,546 - 108,383,792UniSTSGRCh37
Build 366108,490,239 - 108,490,485RGDNCBI36
Celera6109,130,028 - 109,130,274RGD
Cytogenetic Map6q21UniSTS
HuRef6105,951,789 - 105,952,035UniSTS
REN49282  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,383,669 - 108,383,936UniSTSGRCh37
Build 366108,490,362 - 108,490,629RGDNCBI36
Celera6109,130,151 - 109,130,418RGD
Cytogenetic Map6q21UniSTS
HuRef6105,951,912 - 105,952,179UniSTS
REN49283  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,383,878 - 108,384,135UniSTSGRCh37
Build 366108,490,571 - 108,490,828RGDNCBI36
Celera6109,130,360 - 109,130,617RGD
Cytogenetic Map6q21UniSTS
HuRef6105,952,121 - 105,952,378UniSTS
REN49284  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,384,112 - 108,384,369UniSTSGRCh37
Build 366108,490,805 - 108,491,062RGDNCBI36
Celera6109,130,594 - 109,130,865RGD
Cytogenetic Map6q21UniSTS
HuRef6105,952,355 - 105,952,626UniSTS
REN49285  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,384,279 - 108,384,536UniSTSGRCh37
Build 366108,490,972 - 108,491,229RGDNCBI36
Celera6109,130,775 - 109,131,032RGD
Cytogenetic Map6q21UniSTS
HuRef6105,952,536 - 105,952,793UniSTS
REN49286  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,384,509 - 108,384,754UniSTSGRCh37
Build 366108,491,202 - 108,491,447RGDNCBI36
Celera6109,131,005 - 109,131,250RGD
Cytogenetic Map6q21UniSTS
HuRef6105,952,766 - 105,953,011UniSTS
REN49287  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,384,737 - 108,384,995UniSTSGRCh37
Build 366108,491,430 - 108,491,688RGDNCBI36
Celera6109,131,233 - 109,131,491RGD
Cytogenetic Map6q21UniSTS
HuRef6105,952,994 - 105,953,252UniSTS
REN49288  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,384,971 - 108,385,226UniSTSGRCh37
Build 366108,491,664 - 108,491,919RGDNCBI36
Celera6109,131,467 - 109,131,722RGD
Cytogenetic Map6q21UniSTS
HuRef6105,953,228 - 105,953,483UniSTS
REN49289  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,385,203 - 108,385,462UniSTSGRCh37
Build 366108,491,896 - 108,492,155RGDNCBI36
Celera6109,131,699 - 109,131,958RGD
Cytogenetic Map6q21UniSTS
HuRef6105,953,460 - 105,953,719UniSTS
REN49290  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,385,461 - 108,385,707UniSTSGRCh37
Build 366108,492,154 - 108,492,400RGDNCBI36
Celera6109,131,957 - 109,132,203RGD
Cytogenetic Map6q21UniSTS
HuRef6105,953,718 - 105,953,964UniSTS
REN49291  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,385,689 - 108,385,913UniSTSGRCh37
Build 366108,492,382 - 108,492,606RGDNCBI36
Celera6109,132,185 - 109,132,409RGD
Cytogenetic Map6q21UniSTS
HuRef6105,953,946 - 105,954,170UniSTS
REN49292  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,385,869 - 108,386,104UniSTSGRCh37
Build 366108,492,562 - 108,492,797RGDNCBI36
Celera6109,132,365 - 109,132,600RGD
Cytogenetic Map6q21UniSTS
HuRef6105,954,126 - 105,954,361UniSTS
REN49293  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,386,054 - 108,386,314UniSTSGRCh37
Build 366108,492,747 - 108,493,007RGDNCBI36
Celera6109,132,550 - 109,132,810RGD
Cytogenetic Map6q21UniSTS
HuRef6105,954,311 - 105,954,571UniSTS
REN49294  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,386,148 - 108,386,417UniSTSGRCh37
Build 366108,492,841 - 108,493,110RGDNCBI36
Celera6109,132,644 - 109,132,913RGD
Cytogenetic Map6q21UniSTS
HuRef6105,954,405 - 105,954,674UniSTS
REN49295  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,386,732 - 108,386,961UniSTSGRCh37
Build 366108,493,425 - 108,493,654RGDNCBI36
Celera6109,133,228 - 109,133,457RGD
Cytogenetic Map6q21UniSTS
HuRef6105,954,989 - 105,955,218UniSTS
REN49296  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,386,959 - 108,387,203UniSTSGRCh37
Build 366108,493,652 - 108,493,896RGDNCBI36
Celera6109,133,455 - 109,133,699RGD
Cytogenetic Map6q21UniSTS
HuRef6105,955,216 - 105,955,460UniSTS
REN49297  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,387,183 - 108,387,434UniSTSGRCh37
Build 366108,493,876 - 108,494,127RGDNCBI36
Celera6109,133,679 - 109,133,930RGD
Cytogenetic Map6q21UniSTS
HuRef6105,955,440 - 105,955,691UniSTS
REN49298  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,387,410 - 108,387,668UniSTSGRCh37
Build 366108,494,103 - 108,494,361RGDNCBI36
Celera6109,133,906 - 109,134,164RGD
Cytogenetic Map6q21UniSTS
HuRef6105,955,667 - 105,955,925UniSTS
REN49299  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,387,615 - 108,387,857UniSTSGRCh37
Build 366108,494,308 - 108,494,550RGDNCBI36
Celera6109,134,111 - 109,134,353RGD
Cytogenetic Map6q21UniSTS
HuRef6105,955,872 - 105,956,114UniSTS
REN49300  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,387,836 - 108,388,096UniSTSGRCh37
Build 366108,494,529 - 108,494,789RGDNCBI36
Celera6109,134,332 - 109,134,592RGD
Cytogenetic Map6q21UniSTS
HuRef6105,956,093 - 105,956,353UniSTS
REN49301  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,388,073 - 108,388,325UniSTSGRCh37
Build 366108,494,766 - 108,495,018RGDNCBI36
Celera6109,134,569 - 109,134,821RGD
Cytogenetic Map6q21UniSTS
HuRef6105,956,330 - 105,956,582UniSTS
REN49302  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,388,302 - 108,388,566UniSTSGRCh37
Build 366108,494,995 - 108,495,259RGDNCBI36
Celera6109,134,798 - 109,135,062RGD
Cytogenetic Map6q21UniSTS
HuRef6105,956,559 - 105,956,823UniSTS
REN49303  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,388,522 - 108,388,761UniSTSGRCh37
Build 366108,495,215 - 108,495,454RGDNCBI36
Celera6109,135,018 - 109,135,257RGD
Cytogenetic Map6q21UniSTS
HuRef6105,956,779 - 105,957,018UniSTS
REN49304  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,388,724 - 108,388,973UniSTSGRCh37
Build 366108,495,417 - 108,495,666RGDNCBI36
Celera6109,135,220 - 109,135,469RGD
Cytogenetic Map6q21UniSTS
HuRef6105,956,981 - 105,957,230UniSTS
REN49305  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,389,081 - 108,389,310UniSTSGRCh37
Build 366108,495,774 - 108,496,003RGDNCBI36
Celera6109,135,577 - 109,135,806RGD
Cytogenetic Map6q21UniSTS
HuRef6105,957,338 - 105,957,567UniSTS
REN49306  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,389,294 - 108,389,531UniSTSGRCh37
Build 366108,495,987 - 108,496,224RGDNCBI36
Celera6109,135,790 - 109,136,027RGD
Cytogenetic Map6q21UniSTS
HuRef6105,957,551 - 105,957,788UniSTS
REN49307  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,389,514 - 108,389,760UniSTSGRCh37
Build 366108,496,207 - 108,496,453RGDNCBI36
Celera6109,136,010 - 109,136,256RGD
Cytogenetic Map6q21UniSTS
HuRef6105,957,771 - 105,958,017UniSTS
REN49308  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,389,716 - 108,389,969UniSTSGRCh37
Build 366108,496,409 - 108,496,662RGDNCBI36
Celera6109,136,212 - 109,136,465RGD
Cytogenetic Map6q21UniSTS
HuRef6105,957,973 - 105,958,226UniSTS
REN49309  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,389,953 - 108,390,198UniSTSGRCh37
Build 366108,496,646 - 108,496,891RGDNCBI36
Celera6109,136,449 - 109,136,694RGD
Cytogenetic Map6q21UniSTS
HuRef6105,958,210 - 105,958,455UniSTS
REN49310  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,390,184 - 108,390,438UniSTSGRCh37
Build 366108,496,877 - 108,497,131RGDNCBI36
Celera6109,136,680 - 109,136,934RGD
Cytogenetic Map6q21UniSTS
HuRef6105,958,441 - 105,958,695UniSTS
REN49311  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,390,424 - 108,390,669UniSTSGRCh37
Build 366108,497,117 - 108,497,362RGDNCBI36
Celera6109,136,920 - 109,137,165RGD
Cytogenetic Map6q21UniSTS
HuRef6105,958,681 - 105,958,926UniSTS
REN49312  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,390,643 - 108,390,911UniSTSGRCh37
Build 366108,497,336 - 108,497,604RGDNCBI36
Celera6109,137,139 - 109,137,407RGD
Cytogenetic Map6q21UniSTS
HuRef6105,958,900 - 105,959,168UniSTS
REN49313  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,390,909 - 108,391,158UniSTSGRCh37
Build 366108,497,602 - 108,497,851RGDNCBI36
Celera6109,137,405 - 109,137,654RGD
Cytogenetic Map6q21UniSTS
HuRef6105,959,166 - 105,959,415UniSTS
REN49314  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,391,082 - 108,391,329UniSTSGRCh37
Build 366108,497,775 - 108,498,022RGDNCBI36
Celera6109,137,578 - 109,137,825RGD
Cytogenetic Map6q21UniSTS
HuRef6105,959,339 - 105,959,586UniSTS
REN49315  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,391,304 - 108,391,575UniSTSGRCh37
Build 366108,497,997 - 108,498,268RGDNCBI36
Celera6109,137,800 - 109,138,071RGD
Cytogenetic Map6q21UniSTS
HuRef6105,959,561 - 105,959,832UniSTS
REN49316  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,391,562 - 108,391,819UniSTSGRCh37
Build 366108,498,255 - 108,498,512RGDNCBI36
Celera6109,138,058 - 109,138,315RGD
Cytogenetic Map6q21UniSTS
HuRef6105,959,819 - 105,960,076UniSTS
REN49317  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,392,425 - 108,392,649UniSTSGRCh37
Build 366108,499,118 - 108,499,342RGDNCBI36
Celera6109,138,921 - 109,139,145RGD
Cytogenetic Map6q21UniSTS
HuRef6105,960,682 - 105,960,906UniSTS
REN49318  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,392,807 - 108,393,053UniSTSGRCh37
Build 366108,499,500 - 108,499,746RGDNCBI36
Celera6109,139,303 - 109,139,549RGD
Cytogenetic Map6q21UniSTS
HuRef6105,961,064 - 105,961,310UniSTS
REN49319  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,393,030 - 108,393,277UniSTSGRCh37
Build 366108,499,723 - 108,499,970RGDNCBI36
Celera6109,139,526 - 109,139,773RGD
Cytogenetic Map6q21UniSTS
HuRef6105,961,287 - 105,961,534UniSTS
REN49320  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,393,276 - 108,393,530UniSTSGRCh37
Build 366108,499,969 - 108,500,223RGDNCBI36
Celera6109,139,772 - 109,140,026RGD
Cytogenetic Map6q21UniSTS
HuRef6105,961,533 - 105,961,787UniSTS
REN49321  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,393,475 - 108,393,711UniSTSGRCh37
Build 366108,500,168 - 108,500,404RGDNCBI36
Celera6109,139,971 - 109,140,207RGD
Cytogenetic Map6q21UniSTS
HuRef6105,961,732 - 105,961,968UniSTS
REN49322  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,393,678 - 108,393,917UniSTSGRCh37
Build 366108,500,371 - 108,500,610RGDNCBI36
Celera6109,140,174 - 109,140,414RGD
Cytogenetic Map6q21UniSTS
HuRef6105,961,935 - 105,962,174UniSTS
REN49323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,393,874 - 108,394,122UniSTSGRCh37
Build 366108,500,567 - 108,500,815RGDNCBI36
Celera6109,140,371 - 109,140,619RGD
Cytogenetic Map6q21UniSTS
HuRef6105,962,131 - 105,962,379UniSTS
REN49324  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,394,099 - 108,394,357UniSTSGRCh37
Build 366108,500,792 - 108,501,050RGDNCBI36
Celera6109,140,596 - 109,140,854RGD
Cytogenetic Map6q21UniSTS
HuRef6105,962,356 - 105,962,614UniSTS
REN49325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,394,331 - 108,394,582UniSTSGRCh37
Build 366108,501,024 - 108,501,275RGDNCBI36
Celera6109,140,828 - 109,141,079RGD
Cytogenetic Map6q21UniSTS
HuRef6105,962,588 - 105,962,839UniSTS
REN49326  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,394,557 - 108,394,794UniSTSGRCh37
Build 366108,501,250 - 108,501,487RGDNCBI36
Celera6109,141,054 - 109,141,291RGD
Cytogenetic Map6q21UniSTS
HuRef6105,962,814 - 105,963,051UniSTS
REN49327  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,394,768 - 108,395,011UniSTSGRCh37
Build 366108,501,461 - 108,501,704RGDNCBI36
Celera6109,141,265 - 109,141,508RGD
Cytogenetic Map6q21UniSTS
HuRef6105,963,025 - 105,963,268UniSTS
REN49328  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,394,987 - 108,395,257UniSTSGRCh37
Build 366108,501,680 - 108,501,950RGDNCBI36
Celera6109,141,484 - 109,141,754RGD
Cytogenetic Map6q21UniSTS
HuRef6105,963,244 - 105,963,514UniSTS
REN49329  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,395,241 - 108,395,489UniSTSGRCh37
Build 366108,501,934 - 108,502,182RGDNCBI36
Celera6109,141,738 - 109,141,986RGD
Cytogenetic Map6q21UniSTS
HuRef6105,963,498 - 105,963,746UniSTS
REN49330  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,395,478 - 108,395,733UniSTSGRCh37
Build 366108,502,171 - 108,502,426RGDNCBI36
Celera6109,141,975 - 109,142,230RGD
Cytogenetic Map6q21UniSTS
HuRef6105,963,735 - 105,963,990UniSTS
REN49331  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,395,506 - 108,395,745UniSTSGRCh37
Build 366108,502,199 - 108,502,438RGDNCBI36
Celera6109,142,003 - 109,142,242RGD
Cytogenetic Map6q21UniSTS
HuRef6105,963,763 - 105,964,002UniSTS
REN49332  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,396,118 - 108,396,351UniSTSGRCh37
Build 366108,502,811 - 108,503,044RGDNCBI36
Celera6109,142,615 - 109,142,848RGD
Cytogenetic Map6q21UniSTS
HuRef6105,964,375 - 105,964,608UniSTS
REN49333  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,396,346 - 108,396,575UniSTSGRCh37
Build 366108,503,039 - 108,503,268RGDNCBI36
Celera6109,142,843 - 109,143,072RGD
Cytogenetic Map6q21UniSTS
HuRef6105,964,603 - 105,964,832UniSTS
REN49334  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,396,557 - 108,396,795UniSTSGRCh37
Build 366108,503,250 - 108,503,488RGDNCBI36
Celera6109,143,054 - 109,143,292RGD
Cytogenetic Map6q21UniSTS
HuRef6105,964,814 - 105,965,052UniSTS
REN49335  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,396,782 - 108,397,045UniSTSGRCh37
Build 366108,503,475 - 108,503,738RGDNCBI36
Celera6109,143,279 - 109,143,542RGD
Cytogenetic Map6q21UniSTS
HuRef6105,965,039 - 105,965,302UniSTS
REN49336  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,397,042 - 108,397,266UniSTSGRCh37
Build 366108,503,735 - 108,503,959RGDNCBI36
Celera6109,143,539 - 109,143,763RGD
Cytogenetic Map6q21UniSTS
HuRef6105,965,299 - 105,965,523UniSTS
REN49337  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,397,243 - 108,397,488UniSTSGRCh37
Build 366108,503,936 - 108,504,181RGDNCBI36
Celera6109,143,740 - 109,143,985RGD
Cytogenetic Map6q21UniSTS
HuRef6105,965,500 - 105,965,745UniSTS
REN49338  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,397,465 - 108,397,721UniSTSGRCh37
Build 366108,504,158 - 108,504,414RGDNCBI36
Celera6109,143,962 - 109,144,218RGD
Cytogenetic Map6q21UniSTS
HuRef6105,965,722 - 105,965,978UniSTS
REN49339  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,397,685 - 108,397,924UniSTSGRCh37
Build 366108,504,378 - 108,504,617RGDNCBI36
Celera6109,144,182 - 109,144,421RGD
Cytogenetic Map6q21UniSTS
HuRef6105,965,942 - 105,966,181UniSTS
WIAF-2219  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,362,763 - 108,362,890UniSTSGRCh37
Build 366108,469,456 - 108,469,583RGDNCBI36
Celera6109,109,245 - 109,109,372RGD
Cytogenetic Map6q21UniSTS
HuRef6105,931,006 - 105,931,133UniSTS
GeneMap99-GB4 RH Map6464.49UniSTS
NCBI RH Map61401.4UniSTS
RH47843  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,363,195 - 108,363,335UniSTSGRCh37
Build 366108,469,888 - 108,470,028RGDNCBI36
Celera6109,109,677 - 109,109,817RGD
Cytogenetic Map6q21UniSTS
HuRef6105,931,438 - 105,931,578UniSTS
GeneMap99-GB4 RH Map6466.71UniSTS
RH48152  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,373,918 - 108,374,049UniSTSGRCh37
Build 366108,480,611 - 108,480,742RGDNCBI36
Celera6109,120,400 - 109,120,531RGD
Cytogenetic Map6q21UniSTS
HuRef6105,942,161 - 105,942,292UniSTS
GeneMap99-GB4 RH Map6459.92UniSTS
NCBI RH Map61406.9UniSTS
stSG634077  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,362,199 - 108,363,214UniSTSGRCh37
Build 366108,468,892 - 108,469,907RGDNCBI36
Celera6109,108,681 - 109,109,696RGD
HuRef6105,930,442 - 105,931,457UniSTS
stSG634078  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,363,194 - 108,364,514UniSTSGRCh37
Build 366108,469,887 - 108,471,207RGDNCBI36
Celera6109,109,676 - 109,110,996RGD
Cytogenetic Map6q21UniSTS
HuRef6105,931,437 - 105,932,757UniSTS
stSG634079  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,364,495 - 108,365,961UniSTSGRCh37
Build 366108,471,188 - 108,472,654RGDNCBI36
Celera6109,110,977 - 109,112,443RGD
Cytogenetic Map6q21UniSTS
HuRef6105,932,738 - 105,934,204UniSTS
stSG634080  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,365,940 - 108,366,943UniSTSGRCh37
Build 366108,472,633 - 108,473,636RGDNCBI36
Celera6109,112,422 - 109,113,425RGD
HuRef6105,934,183 - 105,935,186UniSTS
stSG634081  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,366,924 - 108,368,265UniSTSGRCh37
Build 366108,473,617 - 108,474,958RGDNCBI36
Celera6109,113,406 - 109,114,747RGD
HuRef6105,935,167 - 105,936,508UniSTS
stSG634082  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,368,249 - 108,369,608UniSTSGRCh37
Build 366108,474,942 - 108,476,301RGDNCBI36
Celera6109,114,731 - 109,116,090RGD
HuRef6105,936,492 - 105,937,851UniSTS
stSG634083  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,369,589 - 108,370,779UniSTSGRCh37
Build 366108,476,282 - 108,477,472RGDNCBI36
Celera6109,116,071 - 109,117,261RGD
HuRef6105,937,832 - 105,939,022UniSTS
stSG634084  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,370,760 - 108,371,946UniSTSGRCh37
Build 366108,477,453 - 108,478,639RGDNCBI36
Celera6109,117,242 - 109,118,428RGD
HuRef6105,939,003 - 105,940,189UniSTS
stSG634085  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,371,928 - 108,373,234UniSTSGRCh37
Build 366108,478,621 - 108,479,927RGDNCBI36
Celera6109,118,410 - 109,119,716RGD
HuRef6105,940,171 - 105,941,477UniSTS
stSG634086  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,373,242 - 108,374,695UniSTSGRCh37
Build 366108,479,935 - 108,481,388RGDNCBI36
Celera6109,119,724 - 109,121,177RGD
HuRef6105,941,485 - 105,942,938UniSTS
stSG634087  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,375,115 - 108,376,211UniSTSGRCh37
Build 366108,481,808 - 108,482,904RGDNCBI36
Celera6109,121,597 - 109,122,693RGD
HuRef6105,943,358 - 105,944,454UniSTS
stSG634088  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,376,266 - 108,377,669UniSTSGRCh37
Build 366108,482,959 - 108,484,362RGDNCBI36
Celera6109,122,748 - 109,124,151RGD
HuRef6105,944,509 - 105,945,912UniSTS
stSG634089  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,377,653 - 108,378,696UniSTSGRCh37
Build 366108,484,346 - 108,485,389RGDNCBI36
Celera6109,124,135 - 109,125,178RGD
HuRef6105,945,896 - 105,946,939UniSTS
stSG634090  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,378,690 - 108,380,140UniSTSGRCh37
Build 366108,485,383 - 108,486,833RGDNCBI36
Celera6109,125,172 - 109,126,622RGD
HuRef6105,946,933 - 105,948,383UniSTS
stSG634091  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,380,121 - 108,381,303UniSTSGRCh37
Build 366108,486,814 - 108,487,996RGDNCBI36
Celera6109,126,603 - 109,127,785RGD
HuRef6105,948,364 - 105,949,546UniSTS
stSG634092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,381,284 - 108,382,457UniSTSGRCh37
Build 366108,487,977 - 108,489,150RGDNCBI36
Celera6109,127,766 - 109,128,939RGD
HuRef6105,949,527 - 105,950,700UniSTS
stSG634093  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,382,001 - 108,383,108UniSTSGRCh37
Build 366108,488,694 - 108,489,801RGDNCBI36
Celera6109,128,483 - 109,129,590RGD
HuRef6105,950,244 - 105,951,351UniSTS
stSG634094  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,383,090 - 108,384,176UniSTSGRCh37
Build 366108,489,783 - 108,490,869RGDNCBI36
Celera6109,129,572 - 109,130,658RGD
HuRef6105,951,333 - 105,952,419UniSTS
stSG634095  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,384,158 - 108,385,315UniSTSGRCh37
Build 366108,490,851 - 108,492,008RGDNCBI36
Celera6109,130,640 - 109,131,811RGD
HuRef6105,952,401 - 105,953,572UniSTS
stSG634096  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,385,296 - 108,386,418UniSTSGRCh37
Build 366108,491,989 - 108,493,111RGDNCBI36
Celera6109,131,792 - 109,132,914RGD
HuRef6105,953,553 - 105,954,675UniSTS
stSG634097  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,386,399 - 108,387,435UniSTSGRCh37
Build 366108,493,092 - 108,494,128RGDNCBI36
Celera6109,132,895 - 109,133,931RGD
HuRef6105,954,656 - 105,955,692UniSTS
stSG634098  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,387,083 - 108,388,100UniSTSGRCh37
Build 366108,493,776 - 108,494,793RGDNCBI36
Celera6109,133,579 - 109,134,596RGD
HuRef6105,955,340 - 105,956,357UniSTS
stSG634099  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,390,553 - 108,391,565UniSTSGRCh37
Build 366108,497,246 - 108,498,258RGDNCBI36
Celera6109,137,049 - 109,138,061RGD
HuRef6105,958,810 - 105,959,822UniSTS
stSG634100  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,391,546 - 108,392,863UniSTSGRCh37
Build 366108,498,239 - 108,499,556RGDNCBI36
Celera6109,138,042 - 109,139,359RGD
HuRef6105,959,803 - 105,961,120UniSTS
stSG634102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,394,445 - 108,395,491UniSTSGRCh37
Build 366108,501,138 - 108,502,184RGDNCBI36
Celera6109,140,942 - 109,141,988RGD
HuRef6105,962,702 - 105,963,748UniSTS
stSG634103  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,395,462 - 108,396,461UniSTSGRCh37
Build 366108,502,155 - 108,503,154RGDNCBI36
Celera6109,141,959 - 109,142,958RGD
HuRef6105,963,719 - 105,964,718UniSTS
stSG634104  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,396,442 - 108,397,839UniSTSGRCh37
Build 366108,503,135 - 108,504,532RGDNCBI36
Celera6109,142,939 - 109,144,336RGD
HuRef6105,964,699 - 105,966,096UniSTS
OSTM1__5795  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,363,919 - 108,364,801UniSTSGRCh37
Build 366108,470,612 - 108,471,494RGDNCBI36
Celera6109,110,401 - 109,111,283RGD
HuRef6105,932,162 - 105,933,044UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR140hsa-miR-140-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23389033

Predicted Target Of
Summary Value
Count of predictions:1497
Count of miRNA genes:834
Interacting mature miRNAs:968
Transcripts:ENST00000193322, ENST00000440575, ENST00000467960, ENST00000472669, ENST00000477774, ENST00000492070, ENST00000492130
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1799 1889 1336 186 1050 124 3170 1311 1877 295 1096 1509 78 1 1188 1952 4
Low 640 1099 390 438 898 341 1187 886 1857 123 364 104 97 16 836 2 2
Below cutoff 3 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_942410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA428166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF077205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF533891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ420489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ420572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV715475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC059412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE218267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI668275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BK000461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ716123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT792882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z98200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000193322   ⟹   ENSP00000193322
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6108,041,409 - 108,074,741 (-)Ensembl
RefSeq Acc Id: ENST00000440575   ⟹   ENSP00000398556
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6108,044,831 - 108,165,840 (-)Ensembl
RefSeq Acc Id: ENST00000467960
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6108,064,185 - 108,074,741 (-)Ensembl
RefSeq Acc Id: ENST00000472669
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6108,044,379 - 108,051,066 (-)Ensembl
RefSeq Acc Id: ENST00000477774
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6108,044,733 - 108,049,668 (-)Ensembl
RefSeq Acc Id: ENST00000492070
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6108,122,336 - 108,165,854 (-)Ensembl
RefSeq Acc Id: ENST00000492130
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6108,041,472 - 108,044,238 (-)Ensembl
RefSeq Acc Id: NM_014028   ⟹   NP_054747
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386108,041,409 - 108,074,741 (-)NCBI
GRCh376108,362,613 - 108,395,941 (-)ENTREZGENE
GRCh376108,362,613 - 108,395,941 (-)NCBI
Build 366108,469,306 - 108,502,634 (-)NCBI Archive
HuRef6105,930,856 - 105,964,198 (-)ENTREZGENE
CHM1_16108,625,219 - 108,658,570 (-)NCBI
Sequence:
RefSeq Acc Id: XR_942410
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386108,042,814 - 108,074,733 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_054747   ⟸   NM_014028
- UniProtKB: Q86WC4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000398556   ⟸   ENST00000440575
RefSeq Acc Id: ENSP00000193322   ⟸   ENST00000193322

Promoters
RGD ID:7208833
Promoter ID:EPDNEW_H10161
Type:initiation region
Name:OSTM1_1
Description:osteopetrosis associated transmembrane protein 1
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
GRCh386108,074,719 - 108,074,779EPDNEW
RGD ID:6804507
Promoter ID:HG_KWN:54550
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_014028,   OTTHUMT00000041710
Position:
Human AssemblyChrPosition (strand)Source
Build 366108,502,419 - 108,502,919 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014028.4(OSTM1):c.949+5G>A single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000003076] Chr6:108049248 [GRCh38]
Chr6:108370452 [GRCh37]
Chr6:6q21
pathogenic
OSTM1, 2-BP DEL, 415AG deletion Osteopetrosis autosomal recessive 5 [RCV000003077]|Osteopetrosis, autosomal recessive 5 [RCV000003077] Chr6:6q21 pathogenic
NM_014028.4(OSTM1):c.36T>A (p.Cys12Ter) single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000003078] Chr6:108074616 [GRCh38]
Chr6:108395820 [GRCh37]
Chr6:6q21
pathogenic
NM_014028.4(OSTM1):c.221C>G (p.Pro74Arg) single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000373864]|not provided [RCV000956402]|not specified [RCV000173434] Chr6:108074431 [GRCh38]
Chr6:108395635 [GRCh37]
Chr6:6q21
benign|likely benign
NM_014028.4(OSTM1):c.411_412AG[2] (p.Gln140fs) microsatellite Osteopetrosis, autosomal recessive 5 [RCV000175853]|not provided [RCV000724855] Chr6:108064286..108064287 [GRCh38]
Chr6:108385490..108385491 [GRCh37]
Chr6:6q21
pathogenic
NM_014028.4(OSTM1):c.134A>G (p.Asp45Gly) single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001153655]|not provided [RCV000173435] Chr6:108074518 [GRCh38]
Chr6:108395722 [GRCh37]
Chr6:6q21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1 copy number loss See cases [RCV000134806] Chr6:102356502..111049879 [GRCh38]
Chr6:102804377..111371082 [GRCh37]
Chr6:102911070..111477775 [NCBI36]
Chr6:6q16.3-21
pathogenic
GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1 copy number loss See cases [RCV000138006] Chr6:107370141..115827482 [GRCh38]
Chr6:107691345..116148646 [GRCh37]
Chr6:107798038..116255339 [NCBI36]
Chr6:6q21-22.1
pathogenic
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1
pathogenic
GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1 copy number loss See cases [RCV000139465] Chr6:96609994..122161548 [GRCh38]
Chr6:97057870..122482694 [GRCh37]
Chr6:97164591..122524393 [NCBI36]
Chr6:6q16.1-22.31
pathogenic
GRCh38/hg38 6q21(chr6:107445281-110547907)x1 copy number loss See cases [RCV000141382] Chr6:107445281..110547907 [GRCh38]
Chr6:107766485..110869110 [GRCh37]
Chr6:107873178..110975803 [NCBI36]
Chr6:6q21
pathogenic
GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1 copy number loss See cases [RCV000141587] Chr6:106503719..125781219 [GRCh38]
Chr6:106951594..126102365 [GRCh37]
Chr6:107058287..126144058 [NCBI36]
Chr6:6q21-22.31
pathogenic
GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1 copy number loss See cases [RCV000142287] Chr6:103279465..113934239 [GRCh38]
Chr6:103727340..114255403 [GRCh37]
Chr6:103834033..114362096 [NCBI36]
Chr6:6q16.3-21
pathogenic
GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1 copy number loss See cases [RCV000143227] Chr6:100054889..120488154 [GRCh38]
Chr6:100502765..120809300 [GRCh37]
Chr6:100609486..120850999 [NCBI36]
Chr6:6q16.3-22.31
pathogenic
NM_014028.4(OSTM1):c.*2317A>C single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000263090] Chr6:108042468 [GRCh38]
Chr6:108363672 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.207G>T (p.Gly69=) single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000281983]|not specified [RCV000363284] Chr6:108074445 [GRCh38]
Chr6:108395649 [GRCh37]
Chr6:6q21
benign|likely benign
NM_014028.4(OSTM1):c.*1334T>C single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000268721] Chr6:108043451 [GRCh38]
Chr6:108364655 [GRCh37]
Chr6:6q21
benign|likely benign
NM_014028.4(OSTM1):c.*2858A>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000284353] Chr6:108041927 [GRCh38]
Chr6:108363131 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*432T>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000280038] Chr6:108044353 [GRCh38]
Chr6:108365557 [GRCh37]
Chr6:6q21
uncertain significance
GRCh37/hg19 6q21(chr6:108278386-108831557)x3 copy number gain See cases [RCV000240339] Chr6:108278386..108831557 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*1082G>A single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000273148] Chr6:108043703 [GRCh38]
Chr6:108364907 [GRCh37]
Chr6:6q21
benign|likely benign
NM_014028.4(OSTM1):c.*1427A>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000301507] Chr6:108043358 [GRCh38]
Chr6:108364562 [GRCh37]
Chr6:6q21
benign|likely benign
NM_014028.4(OSTM1):c.*2301A>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000320564] Chr6:108042484 [GRCh38]
Chr6:108363688 [GRCh37]
Chr6:6q21
benign
NM_014028.4(OSTM1):c.*3329A>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000316391] Chr6:108041456 [GRCh38]
Chr6:108362660 [GRCh37]
Chr6:6q21
benign|likely benign
NM_014028.4(OSTM1):c.*2887G>A single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000376713] Chr6:108041898 [GRCh38]
Chr6:108363102 [GRCh37]
Chr6:6q21
benign|likely benign
NM_014028.4(OSTM1):c.*2035A>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000347673] Chr6:108042750 [GRCh38]
Chr6:108363954 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*1455C>T single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000336311] Chr6:108043330 [GRCh38]
Chr6:108364534 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*2329G>T single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000355405] Chr6:108042456 [GRCh38]
Chr6:108363660 [GRCh37]
Chr6:6q21
benign
NM_014028.4(OSTM1):c.*2145A>T single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000325628] Chr6:108042640 [GRCh38]
Chr6:108363844 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*355A>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000337222] Chr6:108044430 [GRCh38]
Chr6:108365634 [GRCh37]
Chr6:6q21
benign|uncertain significance
NM_014028.4(OSTM1):c.*1441del deletion Osteopetrosis [RCV000402959] Chr6:108043344 [GRCh38]
Chr6:108364548 [GRCh37]
Chr6:6q21
benign
NM_014028.4(OSTM1):c.*2277G>A single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000287125] Chr6:108042508 [GRCh38]
Chr6:108363712 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*1367G>A single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000303938] Chr6:108043418 [GRCh38]
Chr6:108364622 [GRCh37]
Chr6:6q21
benign|likely benign
NM_014028.4(OSTM1):c.*2990T>C single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000319751] Chr6:108041795 [GRCh38]
Chr6:108362999 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*2547G>A single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000287739] Chr6:108042238 [GRCh38]
Chr6:108363442 [GRCh37]
Chr6:6q21
benign|likely benign
NM_014028.4(OSTM1):c.156G>C (p.Leu52Phe) single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000320607] Chr6:108074496 [GRCh38]
Chr6:108395700 [GRCh37]
Chr6:6q21
benign|likely benign
NM_014028.4(OSTM1):c.*2053C>T single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000290425] Chr6:108042732 [GRCh38]
Chr6:108363936 [GRCh37]
Chr6:6q21
benign|likely benign
NM_014028.4(OSTM1):c.*212A>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000340777] Chr6:108044573 [GRCh38]
Chr6:108365777 [GRCh37]
Chr6:6q21
benign|likely benign
NM_014028.4(OSTM1):c.*1574A>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000407635] Chr6:108043211 [GRCh38]
Chr6:108364415 [GRCh37]
Chr6:6q21
benign|likely benign
NM_014028.4(OSTM1):c.*2283T>C single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000379201] Chr6:108042502 [GRCh38]
Chr6:108363706 [GRCh37]
Chr6:6q21
benign
NM_014028.4(OSTM1):c.*168T>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000306614] Chr6:108044617 [GRCh38]
Chr6:108365821 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.-67G>T single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000343224] Chr6:108074718 [GRCh38]
Chr6:108395922 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*2138G>T single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000382614] Chr6:108042647 [GRCh38]
Chr6:108363851 [GRCh37]
Chr6:6q21
benign|uncertain significance
NM_014028.4(OSTM1):c.*1161G>A single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000383129] Chr6:108043624 [GRCh38]
Chr6:108364828 [GRCh37]
Chr6:6q21
benign|likely benign
NM_014028.4(OSTM1):c.*1883T>C single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000294002] Chr6:108042902 [GRCh38]
Chr6:108364106 [GRCh37]
Chr6:6q21
benign
NM_014028.4(OSTM1):c.*1407A>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000358535] Chr6:108043378 [GRCh38]
Chr6:108364582 [GRCh37]
Chr6:6q21
benign
NM_014028.4(OSTM1):c.*1205C>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000326182] Chr6:108043580 [GRCh38]
Chr6:108364784 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.784-10C>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000367294] Chr6:108049428 [GRCh38]
Chr6:108370632 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*1352A>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000360961] Chr6:108043433 [GRCh38]
Chr6:108364637 [GRCh37]
Chr6:6q21
benign|likely benign
NM_014028.4(OSTM1):c.*2515_*2516del deletion Osteopetrosis [RCV000310186] Chr6:108042269..108042270 [GRCh38]
Chr6:108363473..108363474 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.933A>G (p.Lys311=) single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000310254] Chr6:108049269 [GRCh38]
Chr6:108370473 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*2364A>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000370346] Chr6:108042421 [GRCh38]
Chr6:108363625 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*3192A>C single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000280980] Chr6:108041593 [GRCh38]
Chr6:108362797 [GRCh37]
Chr6:6q21
likely benign|uncertain significance
NM_014028.4(OSTM1):c.300G>T (p.Gly100=) single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000316873] Chr6:108074352 [GRCh38]
Chr6:108395556 [GRCh37]
Chr6:6q21
likely benign|uncertain significance
NM_014028.4(OSTM1):c.*2344C>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000316918] Chr6:108042441 [GRCh38]
Chr6:108363645 [GRCh37]
Chr6:6q21
benign
NM_014028.4(OSTM1):c.*147G>T single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000363578] Chr6:108044638 [GRCh38]
Chr6:108365842 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*1038A>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000330533] Chr6:108043747 [GRCh38]
Chr6:108364951 [GRCh37]
Chr6:6q21
benign
NM_014028.4(OSTM1):c.*331A>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000391311] Chr6:108044454 [GRCh38]
Chr6:108365658 [GRCh37]
Chr6:6q21
benign
NM_014028.4(OSTM1):c.*778T>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000372152] Chr6:108044007 [GRCh38]
Chr6:108365211 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*3319T>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000373240] Chr6:108041466 [GRCh38]
Chr6:108362670 [GRCh37]
Chr6:6q21
benign|likely benign
NM_014028.4(OSTM1):c.*2488del deletion Osteopetrosis [RCV000367230] Chr6:108042297 [GRCh38]
Chr6:108363501 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*2755A>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000393768] Chr6:108042030 [GRCh38]
Chr6:108363234 [GRCh37]
Chr6:6q21
benign|likely benign
NM_014028.4(OSTM1):c.*2351del deletion Osteopetrosis [RCV000259310] Chr6:108042434 [GRCh38]
Chr6:108363638 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.950-12T>C single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000271331] Chr6:108044852 [GRCh38]
Chr6:108366056 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.143C>G (p.Ser48Trp) single nucleotide variant not provided [RCV000383209] Chr6:108074509 [GRCh38]
Chr6:108395713 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*2371G>A single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000313244] Chr6:108042414 [GRCh38]
Chr6:108363618 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.238C>G (p.Leu80Val) single nucleotide variant not provided [RCV000393060] Chr6:108074414 [GRCh38]
Chr6:108395618 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*2370dup duplication Osteopetrosis [RCV000405194] Chr6:108042414..108042415 [GRCh38]
Chr6:108363618..108363619 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*1399T>A single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000266247] Chr6:108043386 [GRCh38]
Chr6:108364590 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*291A>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000302224] Chr6:108044494 [GRCh38]
Chr6:108365698 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*2517_*2518del deletion Osteopetrosis [RCV000345276] Chr6:108042267..108042268 [GRCh38]
Chr6:108363471..108363472 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*1932dup duplication Osteopetrosis [RCV000401585] Chr6:108042852..108042853 [GRCh38]
Chr6:108364056..108364057 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*953C>T single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000295325] Chr6:108043832 [GRCh38]
Chr6:108365036 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*1023A>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000387319] Chr6:108043762 [GRCh38]
Chr6:108364966 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*1634A>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000351596] Chr6:108043151 [GRCh38]
Chr6:108364355 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.-52G>T single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000285438] Chr6:108074703 [GRCh38]
Chr6:108395907 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*873A>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000352548] Chr6:108043912 [GRCh38]
Chr6:108365116 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*1469G>A single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000297769] Chr6:108043316 [GRCh38]
Chr6:108364520 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*177A>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000391319] Chr6:108044608 [GRCh38]
Chr6:108365812 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*2517del deletion Osteopetrosis [RCV000393759] Chr6:108042268 [GRCh38]
Chr6:108363472 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*2773G>A single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000341739] Chr6:108042012 [GRCh38]
Chr6:108363216 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.67C>T (p.Leu23=) single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000377548] Chr6:108074585 [GRCh38]
Chr6:108395789 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*2366A>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001152176] Chr6:108042419 [GRCh38]
Chr6:108363623 [GRCh37]
Chr6:6q21
likely benign
NM_014028.4(OSTM1):c.*1085T>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001152274] Chr6:108043700 [GRCh38]
Chr6:108364904 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*1045T>C single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001152275] Chr6:108043740 [GRCh38]
Chr6:108364944 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.325G>A (p.Val109Met) single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001152373]|not provided [RCV000728873] Chr6:108074327 [GRCh38]
Chr6:108395531 [GRCh37]
Chr6:6q21
uncertain significance
GRCh37/hg19 6q21(chr6:107446437-108543388)x3 copy number gain See cases [RCV000446442] Chr6:107446437..108543388 [GRCh37]
Chr6:6q21
uncertain significance
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 copy number loss See cases [RCV000445666] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q16.1-21(chr6:97384446-110247755)x1 copy number loss See cases [RCV000510703] Chr6:97384446..110247755 [GRCh37]
Chr6:6q16.1-21
pathogenic
NM_014028.4(OSTM1):c.783+5G>T single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000578346] Chr6:108051026 [GRCh38]
Chr6:108372230 [GRCh37]
Chr6:6q21
pathogenic
GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1 copy number loss See cases [RCV000512470] Chr6:94202605..109878834 [GRCh37]
Chr6:6q16.1-21
pathogenic
GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1 copy number loss not provided [RCV000682693] Chr6:95549951..116684929 [GRCh37]
Chr6:6q16.1-22.1
pathogenic
GRCh37/hg19 6q21(chr6:108325097-108908760)x1 copy number loss not provided [RCV000682706] Chr6:108325097..108908760 [GRCh37]
Chr6:6q21
uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_014028.4(OSTM1):c.486del (p.Phe162fs) deletion Osteopetrosis, autosomal recessive 5 [RCV000987757] Chr6:108064216 [GRCh38]
Chr6:108385420 [GRCh37]
Chr6:6q21
pathogenic
NM_014028.4(OSTM1):c.312C>T (p.Arg104=) single nucleotide variant not provided [RCV000905292] Chr6:108074340 [GRCh38]
Chr6:108395544 [GRCh37]
Chr6:6q21
likely benign
NM_014028.4(OSTM1):c.796C>T (p.Arg266Ter) single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV000779485] Chr6:108049406 [GRCh38]
Chr6:108370610 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.615+8A>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001157854]|not provided [RCV000970985] Chr6:108054482 [GRCh38]
Chr6:108375686 [GRCh37]
Chr6:6q21
benign|likely benign
NM_014028.4(OSTM1):c.*2769G>T single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001152173] Chr6:108042016 [GRCh38]
Chr6:108363220 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*2487T>A single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001152175] Chr6:108042298 [GRCh38]
Chr6:108363502 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*2276C>A single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001156038] Chr6:108042509 [GRCh38]
Chr6:108363713 [GRCh37]
Chr6:6q21
likely benign
NM_014028.4(OSTM1):c.*262C>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001156175] Chr6:108044523 [GRCh38]
Chr6:108365727 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.8C>T (p.Pro3Leu) single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001156259] Chr6:108074644 [GRCh38]
Chr6:108395848 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*872T>C single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001153552] Chr6:108043913 [GRCh38]
Chr6:108365117 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.960C>G (p.Leu320=) single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001157853]|not provided [RCV000970454] Chr6:108044830 [GRCh38]
Chr6:108366034 [GRCh37]
Chr6:6q21
benign
NM_014028.4(OSTM1):c.495A>G (p.Thr165=) single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001152372]|not provided [RCV000894510] Chr6:108064207 [GRCh38]
Chr6:108385411 [GRCh37]
Chr6:6q21
benign|likely benign
NM_014028.4(OSTM1):c.*2707C>T single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001152174] Chr6:108042078 [GRCh38]
Chr6:108363282 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*1166A>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001152273] Chr6:108043619 [GRCh38]
Chr6:108364823 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*2799A>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001157640] Chr6:108041986 [GRCh38]
Chr6:108363190 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*751C>T single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001156174] Chr6:108044034 [GRCh38]
Chr6:108365238 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*1844T>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001156040] Chr6:108042941 [GRCh38]
Chr6:108364145 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*3060G>A single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001157639] Chr6:108041725 [GRCh38]
Chr6:108362929 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*835G>T single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001153553] Chr6:108043950 [GRCh38]
Chr6:108365154 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.280A>G (p.Ser94Gly) single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001153652] Chr6:108074372 [GRCh38]
Chr6:108395576 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*1007G>A single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001153551] Chr6:108043778 [GRCh38]
Chr6:108364982 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.279C>T (p.Asn93=) single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001153653] Chr6:108074373 [GRCh38]
Chr6:108395577 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*2195T>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001156039] Chr6:108042590 [GRCh38]
Chr6:108363794 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*3256A>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001155935] Chr6:108041529 [GRCh38]
Chr6:108362733 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*2362A>G single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001153450] Chr6:108042423 [GRCh38]
Chr6:108363627 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*2276C>T single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001153451] Chr6:108042509 [GRCh38]
Chr6:108363713 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.198A>G (p.Gly66=) single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001153654] Chr6:108074454 [GRCh38]
Chr6:108395658 [GRCh37]
Chr6:6q21
likely benign
NM_014028.4(OSTM1):c.*3186T>C single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001157638] Chr6:108041599 [GRCh38]
Chr6:108362803 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.558A>G (p.Thr186=) single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001157855] Chr6:108054547 [GRCh38]
Chr6:108375751 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.*3280T>C single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001155934] Chr6:108041505 [GRCh38]
Chr6:108362709 [GRCh37]
Chr6:6q21
uncertain significance
NM_014028.4(OSTM1):c.49T>G (p.Trp17Gly) single nucleotide variant Osteopetrosis, autosomal recessive 5 [RCV001156258] Chr6:108074603 [GRCh38]
Chr6:108395807 [GRCh37]
Chr6:6q21
likely benign
GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3 copy number gain Microcephaly [RCV001251053] Chr6:101296547..117004249 [GRCh37]
Chr6:6q16.3-22.1
pathogenic
GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1 copy number loss Deletion 6q16 q21 [RCV001263224] Chr6:98949950..114533905 [GRCh37]
Chr6:6q16.1-21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21652 AgrOrtholog
COSMIC OSTM1 COSMIC
Ensembl Genes ENSG00000081087 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000193322 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000398556 UniProtKB/TrEMBL
Ensembl Transcript ENST00000193322 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000440575 UniProtKB/TrEMBL
GTEx ENSG00000081087 GTEx
HGNC ID HGNC:21652 ENTREZGENE
Human Proteome Map OSTM1 Human Proteome Map
InterPro Osteopetrosis-assoc_TM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:28962 UniProtKB/Swiss-Prot
NCBI Gene 28962 ENTREZGENE
OMIM 259720 OMIM
  607649 OMIM
PANTHER PTHR15644 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam OSTMP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134941162 PharmGKB
UniGene Hs.226780 ENTREZGENE
  Hs.706947 ENTREZGENE
  Hs.745455 ENTREZGENE
UniProt A0A0A0MSP4_HUMAN UniProtKB/TrEMBL
  A0A0S2VEL3_HUMAN UniProtKB/TrEMBL
  OSTM1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary E1P5E3 UniProtKB/Swiss-Prot
  Q5R391 UniProtKB/Swiss-Prot
  Q6PCA7 UniProtKB/Swiss-Prot
  Q7RTW6 UniProtKB/Swiss-Prot
  Q8NC29 UniProtKB/Swiss-Prot
  Q8TC82 UniProtKB/Swiss-Prot
  Q9Y2S9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-08-14 OSTM1  osteoclastogenesis associated transmembrane protein 1  OSTM1  osteopetrosis associated transmembrane protein 1  Symbol and/or name change 5135510 APPROVED