IFT122 (intraflagellar transport 122) - Rat Genome Database

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Gene: IFT122 (intraflagellar transport 122) Homo sapiens
Analyze
Symbol: IFT122
Name: intraflagellar transport 122
RGD ID: 1349473
HGNC Page HGNC
Description: Involved in cilium assembly and intraciliary transport. Acts upstream of or within protein localization to cilium. Located in ciliary basal body. Part of intraciliary transport particle A. Implicated in cranioectodermal dysplasia 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CED; CED1; FAP80; intraflagellar transport 122 homolog; intraflagellar transport protein 122 homolog; SPG; WD repeat domain 10; WD repeat-containing protein 10; WD repeat-containing protein 140; WDR10; WDR10p; WDR140
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC653712  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3129,440,036 - 129,520,507 (+)EnsemblGRCh38hg38GRCh38
GRCh383129,440,075 - 129,520,507 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh373129,159,067 - 129,239,350 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363130,641,658 - 130,721,881 (+)NCBINCBI36hg18NCBI36
Build 343130,641,665 - 130,721,888NCBI
Celera3127,585,804 - 127,666,027 (+)NCBI
Cytogenetic Map3q21.3-q22.1NCBI
HuRef3126,542,357 - 126,622,651 (+)NCBIHuRef
CHM1_13129,122,014 - 129,202,479 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal dental enamel morphology  (IAGP)
Abnormal diaphysis morphology  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal toenail morphology  (IAGP)
Abnormality of the abdominal wall  (IAGP)
Abnormality of the metaphysis  (IAGP)
Anodontia  (IAGP)
Anteverted nares  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bicuspid aortic valve  (IAGP)
Brachydactyly  (IAGP)
Broad distal phalanges of all fingers  (IAGP)
Broad toe  (IAGP)
Chronic kidney disease  (IAGP)
Clinodactyly  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Cone/cone-rod dystrophy  (IAGP)
Craniosynostosis  (IAGP)
Dolichocephaly  (IAGP)
Ectodermal dysplasia  (IAGP)
Enamel hypoplasia  (IAGP)
Epicanthus  (IAGP)
Everted lower lip vermilion  (IAGP)
Fibular hypoplasia  (IAGP)
Fine hair  (IAGP)
Finger syndactyly  (IAGP)
Flattened epiphysis  (IAGP)
Frontal bossing  (IAGP)
Full cheeks  (IAGP)
Hepatic cysts  (IAGP)
Hepatic failure  (IAGP)
Hepatic fibrosis  (IAGP)
Hepatomegaly  (IAGP)
High hypermetropia  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Hypocalcemia  (IAGP)
Hypodontia  (IAGP)
Hypotelorism  (IAGP)
Joint hyperflexibility  (IAGP)
Joint laxity  (IAGP)
Malformation of the hepatic ductal plate  (IAGP)
Microcephaly  (IAGP)
Microdontia  (IAGP)
Myopia  (IAGP)
Narrow chest  (IAGP)
Nystagmus  (IAGP)
Osteoporosis  (IAGP)
Pectus excavatum  (IAGP)
Prominent occiput  (IAGP)
Protuberant abdomen  (IAGP)
Radial deviation of finger  (IAGP)
Renal magnesium wasting  (IAGP)
Retinal dystrophy  (IAGP)
Rhizomelia  (IAGP)
Rod-cone dystrophy  (IAGP)
Sagittal craniosynostosis  (IAGP)
Scaphocephaly  (IAGP)
Short distal phalanx of finger  (IAGP)
Short humerus  (IAGP)
Short nail  (IAGP)
Short ribs  (IAGP)
Short toe  (IAGP)
Single transverse palmar crease  (IAGP)
Slow-growing hair  (IAGP)
Sparse hair  (IAGP)
Taurodontia  (IAGP)
Telecanthus  (IAGP)
Thin nail  (IAGP)
Triphalangeal hallux  (IAGP)
Tubulointerstitial nephritis  (IAGP)
Wide nasal bridge  (IAGP)
Widely spaced teeth  (IAGP)
References

Additional References at PubMed
PMID:8125298   PMID:11242542   PMID:12477932   PMID:14702039   PMID:16344560   PMID:16751776   PMID:18029348   PMID:19946888   PMID:20301743   PMID:20493458   PMID:20889716   PMID:21873635  
PMID:22190034   PMID:23826986   PMID:24027799   PMID:25921289   PMID:26186194   PMID:26496610   PMID:26792575   PMID:27173435   PMID:27932497   PMID:28225217   PMID:28370949   PMID:28514442  
PMID:28611215   PMID:29037998   PMID:29057857   PMID:29220510   PMID:30476139   PMID:33187986   PMID:33957083  


Genomics

Comparative Map Data
IFT122
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3129,440,036 - 129,520,507 (+)EnsemblGRCh38hg38GRCh38
GRCh383129,440,075 - 129,520,507 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh373129,159,067 - 129,239,350 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363130,641,658 - 130,721,881 (+)NCBINCBI36hg18NCBI36
Build 343130,641,665 - 130,721,888NCBI
Celera3127,585,804 - 127,666,027 (+)NCBI
Cytogenetic Map3q21.3-q22.1NCBI
HuRef3126,542,357 - 126,622,651 (+)NCBIHuRef
CHM1_13129,122,014 - 129,202,479 (+)NCBICHM1_1
Ift122
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396115,830,340 - 115,903,660 (+)NCBIGRCm39mm39
GRCm39 Ensembl6115,830,431 - 115,903,660 (+)Ensembl
GRCm386115,853,379 - 115,926,699 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6115,853,470 - 115,926,699 (+)EnsemblGRCm38mm10GRCm38
MGSCv376115,803,546 - 115,876,717 (+)NCBIGRCm37mm9NCBIm37
MGSCv366115,819,147 - 115,892,309 (+)NCBImm8
Celera6117,690,896 - 117,762,021 (+)NCBICelera
Cytogenetic Map6E3NCBI
Ift122
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.24148,905,031 - 148,975,458 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl4148,905,046 - 148,975,458 (+)Ensembl
Rnor_6.04147,756,574 - 147,826,983 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4147,756,553 - 147,826,997 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04211,040,256 - 211,110,694 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44151,982,026 - 152,052,635 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.14152,226,874 - 152,282,409 (+)NCBI
Celera4137,795,055 - 137,865,121 (+)NCBICelera
Cytogenetic Map4q42NCBI
Ift122
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542917,794,879 - 17,858,609 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542917,795,757 - 17,858,609 (-)NCBIChiLan1.0ChiLan1.0
LOC100990238
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.13133,851,433 - 133,930,117 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3133,851,433 - 133,930,117 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v03126,498,018 - 126,578,211 (+)NCBIMhudiblu_PPA_v0panPan3
IFT122
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1205,644,002 - 5,716,702 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl205,644,089 - 5,715,906 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha205,681,501 - 5,754,117 (-)NCBI
ROS_Cfam_1.0205,673,817 - 5,745,833 (-)NCBI
UMICH_Zoey_3.1205,389,645 - 5,462,288 (-)NCBI
UNSW_CanFamBas_1.0205,742,685 - 5,815,217 (-)NCBI
UU_Cfam_GSD_1.0205,718,303 - 5,790,303 (-)NCBI
Ift122
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494217,953,004 - 18,001,629 (+)NCBI
SpeTri2.0NW_004936602908,034 - 956,634 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IFT122
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1368,828,705 - 68,902,062 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11368,828,710 - 68,902,062 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21376,112,286 - 76,129,329 (+)NCBISscrofa10.2Sscrofa10.2susScr3
IFT122
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12251,528,383 - 51,616,757 (-)NCBI
ChlSab1.1 Ensembl2251,528,254 - 51,616,682 (-)Ensembl
Vero_WHO_p1.0NW_023666041114,848,375 - 114,949,041 (+)NCBI
Ift122
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624872462,778 - 520,217 (+)NCBI

Position Markers
SHGC-34629  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373129,225,745 - 129,225,857UniSTSGRCh37
Build 363130,708,435 - 130,708,547RGDNCBI36
Celera3127,652,579 - 127,652,691RGD
Cytogenetic Map3q21UniSTS
HuRef3126,609,338 - 126,609,450UniSTS
Stanford-G3 RH Map35803.0UniSTS
NCBI RH Map31136.8UniSTS
GeneMap99-G3 RH Map36273.0UniSTS
RH16296  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373129,225,752 - 129,225,918UniSTSGRCh37
Build 363130,708,442 - 130,708,608RGDNCBI36
Celera3127,652,586 - 127,652,752RGD
Cytogenetic Map3q21UniSTS
HuRef3126,609,345 - 126,609,511UniSTS
GeneMap99-GB4 RH Map3460.71UniSTS
RH45232  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373129,161,167 - 129,161,372UniSTSGRCh37
Build 363130,643,857 - 130,644,062RGDNCBI36
Celera3127,588,003 - 127,588,208RGD
Cytogenetic Map3q21UniSTS
HuRef3126,544,645 - 126,544,850UniSTS
GeneMap99-GB4 RH Map3460.71UniSTS
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
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS
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
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Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
D3S2907E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373129,238,537 - 129,239,168UniSTSGRCh37
Celera3127,665,373 - 127,666,004UniSTS
Cytogenetic Map3q21UniSTS
HuRef3126,621,838 - 126,622,469UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:9484
Count of miRNA genes:1305
Interacting mature miRNAs:1737
Transcripts:ENST00000296266, ENST00000347300, ENST00000348417, ENST00000349441, ENST00000431818, ENST00000440957, ENST00000448668, ENST00000502304, ENST00000502456, ENST00000504021, ENST00000504444, ENST00000504653, ENST00000506507, ENST00000507221, ENST00000507564, ENST00000508654, ENST00000508826, ENST00000509195, ENST00000509522, ENST00000509815, ENST00000510524, ENST00000511425, ENST00000511498, ENST00000512157, ENST00000512220, ENST00000512814, ENST00000513190, ENST00000513891, ENST00000513932, ENST00000514081, ENST00000514275, ENST00000515783
Prediction methods:Microtar, 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 1875 1651 1178 179 440 44 3358 910 2537 231 1346 1447 141 1162 1955 2
Low 564 1337 548 445 1509 421 999 1286 1197 188 114 166 34 1 42 833 4 2
Below cutoff 3 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001280541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001280545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001280546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_052985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_052989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_052990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005247609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC080007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF244930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF244931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF302154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL449212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU123134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF941125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB099554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB516647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC343174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ580537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ589812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000296266   ⟹   ENSP00000296266
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3129,440,139 - 129,520,345 (+)Ensembl
RefSeq Acc Id: ENST00000347300   ⟹   ENSP00000323973
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3129,440,125 - 129,520,351 (+)Ensembl
RefSeq Acc Id: ENST00000348417   ⟹   ENSP00000324005
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3129,440,224 - 129,520,507 (+)Ensembl
RefSeq Acc Id: ENST00000349441   ⟹   ENSP00000324165
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3129,440,244 - 129,520,351 (+)Ensembl
RefSeq Acc Id: ENST00000431818   ⟹   ENSP00000410946
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3129,440,125 - 129,520,462 (+)Ensembl
RefSeq Acc Id: ENST00000440957   ⟹   ENSP00000401569
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3129,440,036 - 129,520,507 (+)Ensembl
RefSeq Acc Id: ENST00000448668
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3129,481,530 - 129,483,892 (+)Ensembl
RefSeq Acc Id: ENST00000502304   ⟹   ENSP00000427027
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3129,449,871 - 129,463,626 (+)Ensembl
RefSeq Acc Id: ENST00000502456   ⟹   ENSP00000427061
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3129,449,871 - 129,463,622 (+)Ensembl
RefSeq Acc Id: ENST00000504021   ⟹   ENSP00000422179
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3129,440,237 - 129,520,355 (+)Ensembl
RefSeq Acc Id: ENST00000504444
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3129,512,381 - 129,514,820 (+)Ensembl
RefSeq Acc Id: ENST00000504653
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3129,449,871 - 129,452,210 (+)Ensembl
RefSeq Acc Id: ENST00000506507
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3129,449,870 - 129,520,355 (+)Ensembl
RefSeq Acc Id: ENST00000507221   ⟹   ENSP00000427515
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3129,488,191 - 129,502,764 (+)Ensembl
RefSeq Acc Id: ENST00000507564   ⟹   ENSP00000425536
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3129,440,212 - 129,520,265 (+)Ensembl
RefSeq Acc Id: ENST00000508654
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3129,476,139 - 129,478,073 (+)Ensembl
RefSeq Acc Id: ENST00000508826   ⟹   ENSP00000421140
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3129,449,871 - 129,464,693 (+)Ensembl
RefSeq Acc Id: ENST00000509195   ⟹   ENSP00000425540
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3129,449,871 - 129,464,694 (+)Ensembl
RefSeq Acc Id: ENST00000509522   ⟹   ENSP00000424727
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3129,479,890 - 129,504,421 (+)Ensembl
RefSeq Acc Id: ENST00000509815
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3129,449,871 - 129,476,508 (+)Ensembl
RefSeq Acc Id: ENST00000510524   ⟹   ENSP00000423902
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3129,449,871 - 129,461,277 (+)Ensembl
RefSeq Acc Id: ENST00000511425
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3129,487,506 - 129,520,355 (+)Ensembl
RefSeq Acc Id: ENST00000511498   ⟹   ENSP00000422237
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3129,461,309 - 129,476,415 (+)Ensembl
RefSeq Acc Id: ENST00000512157   ⟹   ENSP00000424206
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3129,449,871 - 129,476,753 (+)Ensembl
RefSeq Acc Id: ENST00000512220   ⟹   ENSP00000421953
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3129,440,233 - 129,520,347 (+)Ensembl
RefSeq Acc Id: ENST00000512814
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3129,481,509 - 129,495,487 (+)Ensembl
RefSeq Acc Id: ENST00000513190
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3129,512,358 - 129,520,349 (+)Ensembl
RefSeq Acc Id: ENST00000513891
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3129,481,381 - 129,483,837 (+)Ensembl
RefSeq Acc Id: ENST00000513932
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3129,495,450 - 129,504,033 (+)Ensembl
RefSeq Acc Id: ENST00000514081
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3129,463,121 - 129,464,690 (+)Ensembl
RefSeq Acc Id: ENST00000514275   ⟹   ENSP00000423921
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3129,449,871 - 129,463,626 (+)Ensembl
RefSeq Acc Id: ENST00000515783   ⟹   ENSP00000423288
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3129,449,871 - 129,479,917 (+)Ensembl
RefSeq Acc Id: NM_001280541   ⟹   NP_001267470
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,224 - 129,520,507 (+)NCBI
HuRef3126,542,357 - 126,622,651 (+)NCBI
CHM1_13129,122,014 - 129,202,479 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001280545   ⟹   NP_001267474
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,224 - 129,520,507 (+)NCBI
HuRef3126,542,357 - 126,622,651 (+)NCBI
CHM1_13129,122,014 - 129,202,479 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001280546   ⟹   NP_001267475
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,224 - 129,520,507 (+)NCBI
HuRef3126,542,357 - 126,622,651 (+)NCBI
CHM1_13129,122,014 - 129,202,479 (+)NCBI
Sequence:
RefSeq Acc Id: NM_018262   ⟹   NP_060732
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,224 - 129,520,507 (+)NCBI
GRCh373129,158,671 - 129,239,350 (+)NCBI
Build 363130,641,658 - 130,721,880 (+)NCBI Archive
Celera3127,585,804 - 127,666,027 (+)RGD
HuRef3126,542,357 - 126,622,651 (+)NCBI
CHM1_13129,122,014 - 129,202,479 (+)NCBI
Sequence:
RefSeq Acc Id: NM_052985   ⟹   NP_443711
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,224 - 129,520,507 (+)NCBI
GRCh373129,158,671 - 129,239,350 (+)NCBI
Build 363130,641,658 - 130,721,881 (+)NCBI Archive
Celera3127,585,804 - 127,666,027 (+)RGD
HuRef3126,542,357 - 126,622,651 (+)NCBI
CHM1_13129,122,014 - 129,202,479 (+)NCBI
Sequence:
RefSeq Acc Id: NM_052989   ⟹   NP_443715
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,224 - 129,520,507 (+)NCBI
GRCh373129,158,671 - 129,239,350 (+)NCBI
Build 363130,641,658 - 130,721,881 (+)NCBI Archive
Celera3127,585,804 - 127,666,027 (+)RGD
HuRef3126,542,357 - 126,622,651 (+)NCBI
CHM1_13129,122,014 - 129,202,479 (+)NCBI
Sequence:
RefSeq Acc Id: NM_052990   ⟹   NP_443716
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,224 - 129,520,507 (+)NCBI
GRCh373129,158,671 - 129,239,350 (+)NCBI
Build 363130,641,658 - 130,721,881 (+)NCBI Archive
Celera3127,585,804 - 127,666,027 (+)RGD
HuRef3126,542,357 - 126,622,651 (+)NCBI
CHM1_13129,122,014 - 129,202,479 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005247609   ⟹   XP_005247666
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,126 - 129,520,355 (+)NCBI
GRCh373129,158,671 - 129,239,350 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006713689   ⟹   XP_006713752
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,126 - 129,520,355 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006713691   ⟹   XP_006713754
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,126 - 129,520,355 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006713692   ⟹   XP_006713755
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,126 - 129,520,355 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006713695   ⟹   XP_006713758
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,126 - 129,504,086 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011512972   ⟹   XP_011511274
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,126 - 129,507,593 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006817   ⟹   XP_016862306
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,126 - 129,520,368 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006818   ⟹   XP_016862307
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,126 - 129,520,368 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006819   ⟹   XP_016862308
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,126 - 129,520,368 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006820   ⟹   XP_016862309
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,126 - 129,520,368 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006821   ⟹   XP_016862310
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,126 - 129,520,355 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006822   ⟹   XP_016862311
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,125 - 129,520,368 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006823   ⟹   XP_016862312
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,126 - 129,520,368 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006824   ⟹   XP_016862313
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,126 - 129,520,368 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006825   ⟹   XP_016862314
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,126 - 129,520,368 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006826   ⟹   XP_016862315
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,126 - 129,520,368 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006827   ⟹   XP_016862316
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,126 - 129,520,355 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006828   ⟹   XP_016862317
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,125 - 129,520,368 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006829   ⟹   XP_016862318
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,125 - 129,520,355 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006830   ⟹   XP_016862319
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,233 - 129,520,368 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006831   ⟹   XP_016862320
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,075 - 129,520,368 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006832   ⟹   XP_016862321
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,247 - 129,520,368 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006833   ⟹   XP_016862322
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,125 - 129,520,355 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006834   ⟹   XP_016862323
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,125 - 129,520,355 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006835   ⟹   XP_016862324
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,075 - 129,520,368 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006836   ⟹   XP_016862325
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,233 - 129,520,355 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006837   ⟹   XP_016862326
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,476,314 - 129,520,368 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006838   ⟹   XP_016862327
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,264 - 129,520,355 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024453639   ⟹   XP_024309407
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,233 - 129,520,355 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001267470 (Get FASTA)   NCBI Sequence Viewer  
  NP_001267474 (Get FASTA)   NCBI Sequence Viewer  
  NP_001267475 (Get FASTA)   NCBI Sequence Viewer  
  NP_060732 (Get FASTA)   NCBI Sequence Viewer  
  NP_443711 (Get FASTA)   NCBI Sequence Viewer  
  NP_443715 (Get FASTA)   NCBI Sequence Viewer  
  NP_443716 (Get FASTA)   NCBI Sequence Viewer  
  XP_005247666 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713752 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713754 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713755 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713758 (Get FASTA)   NCBI Sequence Viewer  
  XP_011511274 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862306 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862307 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862308 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862309 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862310 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862311 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862312 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862313 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862314 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862315 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862316 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862317 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862318 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862319 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862320 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862321 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862322 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862323 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862324 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862325 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862326 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862327 (Get FASTA)   NCBI Sequence Viewer  
  XP_024309407 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG13415 (Get FASTA)   NCBI Sequence Viewer  
  AAG15427 (Get FASTA)   NCBI Sequence Viewer  
  AAG15428 (Get FASTA)   NCBI Sequence Viewer  
  AAH03045 (Get FASTA)   NCBI Sequence Viewer  
  AAH04238 (Get FASTA)   NCBI Sequence Viewer  
  AAH28353 (Get FASTA)   NCBI Sequence Viewer  
  BAA91888 (Get FASTA)   NCBI Sequence Viewer  
  BAA92000 (Get FASTA)   NCBI Sequence Viewer  
  BAB14077 (Get FASTA)   NCBI Sequence Viewer  
  BAB15725 (Get FASTA)   NCBI Sequence Viewer  
  BAD96815 (Get FASTA)   NCBI Sequence Viewer  
  BAG51146 (Get FASTA)   NCBI Sequence Viewer  
  BAG52955 (Get FASTA)   NCBI Sequence Viewer  
  BAG53393 (Get FASTA)   NCBI Sequence Viewer  
  BAG53823 (Get FASTA)   NCBI Sequence Viewer  
  BAG54015 (Get FASTA)   NCBI Sequence Viewer  
  BAG57250 (Get FASTA)   NCBI Sequence Viewer  
  BAG57728 (Get FASTA)   NCBI Sequence Viewer  
  BAG60729 (Get FASTA)   NCBI Sequence Viewer  
  BAG61744 (Get FASTA)   NCBI Sequence Viewer  
  CAB63718 (Get FASTA)   NCBI Sequence Viewer  
  CAD38710 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43810 (Get FASTA)   NCBI Sequence Viewer  
  EAW79245 (Get FASTA)   NCBI Sequence Viewer  
  EAW79246 (Get FASTA)   NCBI Sequence Viewer  
  EAW79247 (Get FASTA)   NCBI Sequence Viewer  
  EAW79248 (Get FASTA)   NCBI Sequence Viewer  
  EAW79249 (Get FASTA)   NCBI Sequence Viewer  
  EAW79250 (Get FASTA)   NCBI Sequence Viewer  
  Q9HBG6 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_443715   ⟸   NM_052989
- Peptide Label: isoform 2
- UniProtKB: Q9HBG6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_443716   ⟸   NM_052990
- Peptide Label: isoform 4
- UniProtKB: Q9HBG6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_443711   ⟸   NM_052985
- Peptide Label: isoform 1
- UniProtKB: Q9HBG6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_060732   ⟸   NM_018262
- Peptide Label: isoform 3
- UniProtKB: Q9HBG6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001267474   ⟸   NM_001280545
- Peptide Label: isoform 6
- UniProtKB: Q9HBG6 (UniProtKB/Swiss-Prot),   B3KUD1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001267470   ⟸   NM_001280541
- Peptide Label: isoform 5
- UniProtKB: Q9HBG6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001267475   ⟸   NM_001280546
- Peptide Label: isoform 7
- UniProtKB: Q9HBG6 (UniProtKB/Swiss-Prot),   B3KUD1 (UniProtKB/TrEMBL),   B4DST2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005247666   ⟸   XM_005247609
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_006713752   ⟸   XM_006713689
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_006713754   ⟸   XM_006713691
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_006713755   ⟸   XM_006713692
- Peptide Label: isoform X14
- Sequence:
RefSeq Acc Id: XP_006713758   ⟸   XM_006713695
- Peptide Label: isoform X25
- Sequence:
RefSeq Acc Id: XP_011511274   ⟸   XM_011512972
- Peptide Label: isoform X23
- Sequence:
RefSeq Acc Id: XP_016862306   ⟸   XM_017006817
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016862307   ⟸   XM_017006818
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016862308   ⟸   XM_017006819
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016862309   ⟸   XM_017006820
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016862312   ⟸   XM_017006823
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016862313   ⟸   XM_017006824
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016862314   ⟸   XM_017006825
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_016862315   ⟸   XM_017006826
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_016862310   ⟸   XM_017006821
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016862316   ⟸   XM_017006827
- Peptide Label: isoform X15
- Sequence:
RefSeq Acc Id: XP_016862320   ⟸   XM_017006831
- Peptide Label: isoform X18
- Sequence:
RefSeq Acc Id: XP_016862324   ⟸   XM_017006835
- Peptide Label: isoform X21
- Sequence:
RefSeq Acc Id: XP_016862311   ⟸   XM_017006822
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016862317   ⟸   XM_017006828
- Peptide Label: isoform X16
- Sequence:
RefSeq Acc Id: XP_016862318   ⟸   XM_017006829
- Peptide Label: isoform X17
- Sequence:
RefSeq Acc Id: XP_016862322   ⟸   XM_017006833
- Peptide Label: isoform X19
- Sequence:
RefSeq Acc Id: XP_016862323   ⟸   XM_017006834
- Peptide Label: isoform X20
- Sequence:
RefSeq Acc Id: XP_016862319   ⟸   XM_017006830
- Peptide Label: isoform X18
- Sequence:
RefSeq Acc Id: XP_016862325   ⟸   XM_017006836
- Peptide Label: isoform X22
- Sequence:
RefSeq Acc Id: XP_016862321   ⟸   XM_017006832
- Peptide Label: isoform X18
- Sequence:
RefSeq Acc Id: XP_016862327   ⟸   XM_017006838
- Peptide Label: isoform X27
- Sequence:
RefSeq Acc Id: XP_016862326   ⟸   XM_017006837
- Peptide Label: isoform X26
- Sequence:
RefSeq Acc Id: XP_024309407   ⟸   XM_024453639
- Peptide Label: isoform X24
- Sequence:
RefSeq Acc Id: ENSP00000427061   ⟸   ENST00000502456
RefSeq Acc Id: ENSP00000427027   ⟸   ENST00000502304
RefSeq Acc Id: ENSP00000323973   ⟸   ENST00000347300
RefSeq Acc Id: ENSP00000422179   ⟸   ENST00000504021
RefSeq Acc Id: ENSP00000324005   ⟸   ENST00000348417
RefSeq Acc Id: ENSP00000324165   ⟸   ENST00000349441
RefSeq Acc Id: ENSP00000296266   ⟸   ENST00000296266
RefSeq Acc Id: ENSP00000427515   ⟸   ENST00000507221
RefSeq Acc Id: ENSP00000425536   ⟸   ENST00000507564
RefSeq Acc Id: ENSP00000401569   ⟸   ENST00000440957
RefSeq Acc Id: ENSP00000421140   ⟸   ENST00000508826
RefSeq Acc Id: ENSP00000425540   ⟸   ENST00000509195
RefSeq Acc Id: ENSP00000424727   ⟸   ENST00000509522
RefSeq Acc Id: ENSP00000423902   ⟸   ENST00000510524
RefSeq Acc Id: ENSP00000410946   ⟸   ENST00000431818
RefSeq Acc Id: ENSP00000422237   ⟸   ENST00000511498
RefSeq Acc Id: ENSP00000421953   ⟸   ENST00000512220
RefSeq Acc Id: ENSP00000424206   ⟸   ENST00000512157
RefSeq Acc Id: ENSP00000423921   ⟸   ENST00000514275
RefSeq Acc Id: ENSP00000423288   ⟸   ENST00000515783
Protein Domains
WD_REPEATS_REGION

Promoters
RGD ID:6865642
Promoter ID:EPDNEW_H5986
Type:initiation region
Name:IFT122_1
Description:intraflagellar transport 122
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
GRCh383129,440,247 - 129,440,307EPDNEW
RGD ID:6801304
Promoter ID:HG_KWN:46175
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:ENST00000393278,   NM_003925,   NM_052989,   NM_052990,   UC003EMI.1,   UC003EMJ.1,   UC003EML.1,   UC003EMN.1,   UC003EMP.1,   UC003EMQ.1,   UC010HTC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363130,641,356 - 130,642,052 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_052989.3(IFT122):c.1113C>T (p.Asp371=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000543337]|not provided [RCV001553136] Chr3:129476767 [GRCh38]
Chr3:129195610 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_052989.3(IFT122):c.213del (p.Ser72fs) deletion not provided [RCV000722839] Chr3:129458618 [GRCh38]
Chr3:129177461 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.1148-1G>C single nucleotide variant not provided [RCV000728677] Chr3:129478015 [GRCh38]
Chr3:129196858 [GRCh37]
Chr3:3q21.3
pathogenic
NM_052989.3(IFT122):c.3578A>T (p.Gln1193Leu) single nucleotide variant not provided [RCV000519274] Chr3:129519674 [GRCh38]
Chr3:129238517 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052989.3(IFT122):c.1505T>G (p.Val502Gly) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000004898] Chr3:129481546 [GRCh38]
Chr3:129200389 [GRCh37]
Chr3:3q21.3
pathogenic
NM_052989.3(IFT122):c.965C>T (p.Ser322Phe) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000004899] Chr3:129476463 [GRCh38]
Chr3:129195306 [GRCh37]
Chr3:3q21.3
pathogenic|likely pathogenic
NM_052989.3(IFT122):c.349+5G>A single nucleotide variant Cranioectodermal dysplasia 1 [RCV000004900] Chr3:129461309 [GRCh38]
Chr3:129180152 [GRCh37]
Chr3:3q21.3
pathogenic
NM_052989.3(IFT122):c.21G>C (p.Trp7Cys) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000004901] Chr3:129440351 [GRCh38]
Chr3:129159194 [GRCh37]
Chr3:3q21.3
pathogenic
NM_052985.3(IFT122):c.3140+180C>T single nucleotide variant Lung cancer [RCV000092899] Chr3:129512592 [GRCh38]
Chr3:129231435 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052985.3(IFT122):c.660C>T (p.Ile220=) single nucleotide variant Malignant melanoma [RCV000060701] Chr3:129464725 [GRCh38]
Chr3:129183568 [GRCh37]
Chr3:130666258 [NCBI36]
Chr3:3q21.3
not provided
NM_052989.3(IFT122):c.955del (p.Glu319fs) deletion Cranioectodermal dysplasia 1 [RCV000055971] Chr3:129476450 [GRCh38]
Chr3:129195293 [GRCh37]
Chr3:3q21.3
pathogenic
NM_052989.3(IFT122):c.1483G>A (p.Gly495Arg) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000055972]|Cranioectodermal dysplasia [RCV000754963] Chr3:129479917 [GRCh38]
Chr3:129198760 [GRCh37]
Chr3:3q21.3
pathogenic|uncertain significance
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000878672]|Rod-cone dystrophy [RCV001376273]|not provided [RCV001573983]|not specified [RCV000174413] Chr3:129476757 [GRCh38]
Chr3:129195600 [GRCh37]
Chr3:3q21.3
benign|likely benign|uncertain significance
NM_052989.3(IFT122):c.1993-7G>C single nucleotide variant Cranioectodermal dysplasia 1 [RCV000614068]|Cranioectodermal dysplasia [RCV000399437]|not specified [RCV000175375] Chr3:129492134 [GRCh38]
Chr3:129210977 [GRCh37]
Chr3:3q21.3
benign
NM_052989.3(IFT122):c.1715G>T (p.Gly572Val) single nucleotide variant not provided [RCV000171370] Chr3:129483546 [GRCh38]
Chr3:129202389 [GRCh37]
Chr3:3q21.3
likely pathogenic
NM_052989.3(IFT122):c.2375+2T>C single nucleotide variant Cranioectodermal dysplasia [RCV000256473]|not provided [RCV000171371] Chr3:129500070 [GRCh38]
Chr3:129218913 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_052989.3(IFT122):c.3244A>G (p.Ile1082Val) single nucleotide variant Cranioectodermal dysplasia 1 [RCV001391779]|not provided [RCV000983805]|not specified [RCV000176772] Chr3:129515578 [GRCh38]
Chr3:129234421 [GRCh37]
Chr3:3q22.1
benign|likely benign
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
NM_052989.3(IFT122):c.1992+7A>G single nucleotide variant not provided [RCV000175241] Chr3:129488404 [GRCh38]
Chr3:129207247 [GRCh37]
Chr3:3q21.3
conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3 copy number gain See cases [RCV000142010] Chr3:126106779..140918089 [GRCh38]
Chr3:125825622..140636931 [GRCh37]
Chr3:127308312..142119621 [NCBI36]
Chr3:3q21.3-23
uncertain significance
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24
pathogenic
GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1 copy number loss See cases [RCV000142787] Chr3:127607945..133566661 [GRCh38]
Chr3:127326788..133285505 [GRCh37]
Chr3:128809478..134768195 [NCBI36]
Chr3:3q21.3-22.1
likely pathogenic
NM_052989.3(IFT122):c.2245A>T (p.Met749Leu) single nucleotide variant not provided [RCV000176123] Chr3:129499938 [GRCh38]
Chr3:129218781 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.1908T>C (p.Ile636=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000878458]|not specified [RCV000192350] Chr3:129488313 [GRCh38]
Chr3:129207156 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_052989.3(IFT122):c.1993-8C>T single nucleotide variant Cranioectodermal dysplasia 1 [RCV000895989]|not specified [RCV000193565] Chr3:129492133 [GRCh38]
Chr3:129210976 [GRCh37]
Chr3:3q21.3
benign|likely benign|uncertain significance
NM_052989.3(IFT122):c.3432C>T (p.Ile1144=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000878346]|not specified [RCV000193866] Chr3:129519147 [GRCh38]
Chr3:129237990 [GRCh37]
Chr3:3q22.1
benign|likely benign|uncertain significance
NM_052989.3(IFT122):c.273-308A>T single nucleotide variant not provided [RCV000179003] Chr3:129460920 [GRCh38]
Chr3:129179763 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.2749T>G (p.Tyr917Asp) single nucleotide variant Cranioectodermal dysplasia 1 [RCV001086963]|not provided [RCV000724440]|not specified [RCV000194823] Chr3:129506507 [GRCh38]
Chr3:129225350 [GRCh37]
Chr3:3q22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_052989.3(IFT122):c.2721G>A (p.Ala907=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000328099]|not provided [RCV000176430] Chr3:129506479 [GRCh38]
Chr3:129225322 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052989.3(IFT122):c.2720C>T (p.Ala907Val) single nucleotide variant not provided [RCV000176431] Chr3:129506478 [GRCh38]
Chr3:129225321 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052989.3(IFT122):c.3129C>T (p.Arg1043=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000878287]|not provided [RCV001555254]|not specified [RCV000193036] Chr3:129514530 [GRCh38]
Chr3:129233373 [GRCh37]
Chr3:3q22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_052989.3(IFT122):c.3546C>T (p.Leu1182=) single nucleotide variant not provided [RCV000177477] Chr3:129519642 [GRCh38]
Chr3:129238485 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052989.3(IFT122):c.1239G>A (p.Glu413=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000878457] Chr3:129478107 [GRCh38]
Chr3:129196950 [GRCh37]
Chr3:3q21.3
benign|uncertain significance
NM_052989.3(IFT122):c.2294A>C (p.Lys765Thr) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000945879]|not specified [RCV000238824] Chr3:129499987 [GRCh38]
Chr3:129218830 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_052989.3(IFT122):c.3487T>A (p.Phe1163Ile) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000794465]|not provided [RCV000294633] Chr3:129519583 [GRCh38]
Chr3:129238426 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052989.3(IFT122):c.2046+32A>G single nucleotide variant not specified [RCV000243643] Chr3:129492226 [GRCh38]
Chr3:129211069 [GRCh37]
Chr3:3q21.3
benign
NM_052989.3(IFT122):c.3570G>T (p.Leu1190=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000269212] Chr3:129519666 [GRCh38]
Chr3:129238509 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_001280545.1(IFT122):c.-807A>G single nucleotide variant Cranioectodermal dysplasia 1 [RCV000278693]|not provided [RCV001538843] Chr3:129440125 [GRCh38]
Chr3:129158968 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_052989.3(IFT122):c.132C>G (p.Thr44=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000282096]|not provided [RCV000964657] Chr3:129451937 [GRCh38]
Chr3:129170780 [GRCh37]
Chr3:3q21.3
likely benign|uncertain significance
NM_052989.3(IFT122):c.1654-12C>T single nucleotide variant Cranioectodermal dysplasia [RCV000351214]|not specified [RCV000248710] Chr3:129483473 [GRCh38]
Chr3:129202316 [GRCh37]
Chr3:3q21.3
benign
NM_052989.3(IFT122):c.3128G>A (p.Arg1043His) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000283458] Chr3:129514529 [GRCh38]
Chr3:129233372 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052989.3(IFT122):c.1147+19C>T single nucleotide variant not specified [RCV000243928] Chr3:129476820 [GRCh38]
Chr3:129195663 [GRCh37]
Chr3:3q21.3
benign
NM_052989.3(IFT122):c.1026C>T (p.Asp342=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV001086371]|not provided [RCV000725440]|not specified [RCV000251326] Chr3:129476680 [GRCh38]
Chr3:129195523 [GRCh37]
Chr3:3q21.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_052989.3(IFT122):c.740+15G>A single nucleotide variant Cranioectodermal dysplasia [RCV000307477]|not specified [RCV000248999] Chr3:129467081 [GRCh38]
Chr3:129185924 [GRCh37]
Chr3:3q21.3
benign
NM_052989.3(IFT122):c.2060G>A (p.Arg687Gln) single nucleotide variant Cranioectodermal dysplasia 1 [RCV001512051]|Cranioectodermal dysplasia [RCV000260238]|not specified [RCV000249204] Chr3:129495459 [GRCh38]
Chr3:129214302 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_052989.3(IFT122):c.2375+33G>T single nucleotide variant not specified [RCV000253982] Chr3:129500101 [GRCh38]
Chr3:129218944 [GRCh37]
Chr3:3q22.1
benign
NM_052989.3(IFT122):c.825G>T (p.Lys275Asn) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000946250]|not specified [RCV000254384] Chr3:129476323 [GRCh38]
Chr3:129195166 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_052989.3(IFT122):c.2577G>A (p.Glu859=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000275833]|not provided [RCV000894182] Chr3:129504348 [GRCh38]
Chr3:129223191 [GRCh37]
Chr3:3q22.1
likely benign|uncertain significance
NM_052989.3(IFT122):c.273-417del deletion not specified [RCV000245677] Chr3:129460809 [GRCh38]
Chr3:129179652 [GRCh37]
Chr3:3q21.3
likely benign
NM_052989.3(IFT122):c.829C>T (p.Arg277Trp) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000272301] Chr3:129476327 [GRCh38]
Chr3:129195170 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.2154C>T (p.His718=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000637021]|not provided [RCV001569596] Chr3:129495553 [GRCh38]
Chr3:129214396 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_052989.3(IFT122):c.228C>T (p.Ser76=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000313770] Chr3:129458633 [GRCh38]
Chr3:129177476 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.2600C>T (p.Pro867Leu) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000333296] Chr3:129504371 [GRCh38]
Chr3:129223214 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052989.3(IFT122):c.321A>G (p.Gln107=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000951867]|Cranioectodermal dysplasia [RCV000352191]|not provided [RCV001553266]|not specified [RCV000729626] Chr3:129461276 [GRCh38]
Chr3:129180119 [GRCh37]
Chr3:3q21.3
benign|likely benign|uncertain significance
NM_052989.3(IFT122):c.109-15T>C single nucleotide variant Cranioectodermal dysplasia [RCV000374177]|not specified [RCV000609937] Chr3:129451899 [GRCh38]
Chr3:129170742 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_052989.3(IFT122):c.1884A>T (p.Lys628Asn) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000397097] Chr3:129488289 [GRCh38]
Chr3:129207132 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.214T>G (p.Ser72Ala) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000399027] Chr3:129458619 [GRCh38]
Chr3:129177462 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.3268G>A (p.Val1090Met) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000300840] Chr3:129517471 [GRCh38]
Chr3:129236314 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052989.3(IFT122):c.3263A>G (p.Tyr1088Cys) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000334995] Chr3:129515597 [GRCh38]
Chr3:129234440 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052989.3(IFT122):c.2181C>T (p.Thr727=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000974010] Chr3:129495580 [GRCh38]
Chr3:129214423 [GRCh37]
Chr3:3q21.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_052989.3(IFT122):c.938G>A (p.Arg313Gln) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000301619] Chr3:129476436 [GRCh38]
Chr3:129195279 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.-3G>A single nucleotide variant Cranioectodermal dysplasia 1 [RCV000335929] Chr3:129440328 [GRCh38]
Chr3:129159171 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.475C>T (p.Arg159Trp) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000401067] Chr3:129464693 [GRCh38]
Chr3:129183536 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001280545.1(IFT122):c.-811C>A single nucleotide variant Cranioectodermal dysplasia 1 [RCV000380131]|not provided [RCV001557240] Chr3:129440121 [GRCh38]
Chr3:129158964 [GRCh37]
Chr3:3q21.3
benign|likely benign|uncertain significance
NM_052989.3(IFT122):c.3252C>T (p.Ser1084=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000286886] Chr3:129515586 [GRCh38]
Chr3:129234429 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052989.3(IFT122):c.2681C>T (p.Ala894Val) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000289480] Chr3:129506439 [GRCh38]
Chr3:129225282 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052989.3(IFT122):c.1294A>G (p.Lys432Glu) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000319859] Chr3:129478162 [GRCh38]
Chr3:129197005 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.1009-14C>T single nucleotide variant Cranioectodermal dysplasia 1 [RCV000358875] Chr3:129476649 [GRCh38]
Chr3:129195492 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.2629C>T (p.Arg877Cys) single nucleotide variant Cranioectodermal dysplasia [RCV000380898] Chr3:129504400 [GRCh38]
Chr3:129223243 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052989.3(IFT122):c.1758C>G (p.His586Gln) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000288140] Chr3:129483589 [GRCh38]
Chr3:129202432 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.2018G>A (p.Arg673Gln) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000305047] Chr3:129492166 [GRCh38]
Chr3:129211009 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.3131C>T (p.Ala1044Val) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000340857] Chr3:129514532 [GRCh38]
Chr3:129233375 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052989.3(IFT122):c.2055G>T (p.Lys685Asn) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000362017] Chr3:129495454 [GRCh38]
Chr3:129214297 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.2840G>A (p.Arg947His) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000384913] Chr3:129507716 [GRCh38]
Chr3:129226559 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052989.3(IFT122):c.1533G>A (p.Leu511=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000960808]|not specified [RCV000613265] Chr3:129481574 [GRCh38]
Chr3:129200417 [GRCh37]
Chr3:3q21.3
benign|likely benign|uncertain significance
NM_052989.3(IFT122):c.*16C>T single nucleotide variant Cranioectodermal dysplasia 1 [RCV000364892] Chr3:129520281 [GRCh38]
Chr3:129239124 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052989.3(IFT122):c.1553G>A (p.Arg518His) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000294078] Chr3:129481594 [GRCh38]
Chr3:129200437 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.3636+3A>G single nucleotide variant Cranioectodermal dysplasia 1 [RCV000326518] Chr3:129519735 [GRCh38]
Chr3:129238578 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052989.3(IFT122):c.3303G>T (p.Gly1101=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000550756] Chr3:129517506 [GRCh38]
Chr3:129236349 [GRCh37]
Chr3:3q22.1
benign|uncertain significance
NM_052989.3(IFT122):c.1713G>T (p.Ser571=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000536035]|Cranioectodermal dysplasia [RCV000389496] Chr3:129483544 [GRCh38]
Chr3:129202387 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_052989.3(IFT122):c.1943A>C (p.Glu648Ala) single nucleotide variant Cranioectodermal dysplasia 1 [RCV001522318]|Cranioectodermal dysplasia [RCV000310801]|not provided [RCV001572701] Chr3:129488348 [GRCh38]
Chr3:129207191 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_052989.3(IFT122):c.2433C>T (p.Cys811=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000945404] Chr3:129502768 [GRCh38]
Chr3:129221611 [GRCh37]
Chr3:3q22.1
benign|likely benign|uncertain significance
NM_052989.3(IFT122):c.2415C>T (p.Arg805=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000637018]|not provided [RCV001568782] Chr3:129502750 [GRCh38]
Chr3:129221593 [GRCh37]
Chr3:3q22.1
benign|likely benign
NM_052989.3(IFT122):c.199C>A (p.Arg67Ser) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000348801] Chr3:129458604 [GRCh38]
Chr3:129177447 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.3533G>A (p.Arg1178His) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000878416]|Microcephaly [RCV001252861] Chr3:129519629 [GRCh38]
Chr3:129238472 [GRCh37]
Chr3:3q22.1
likely benign|uncertain significance
NM_052989.3(IFT122):c.1150C>T (p.Arg384Trp) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000371676] Chr3:129478018 [GRCh38]
Chr3:129196861 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.3154-9G>A single nucleotide variant Cranioectodermal dysplasia 1 [RCV000394659] Chr3:129515479 [GRCh38]
Chr3:129234322 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052989.3(IFT122):c.3265+7C>T single nucleotide variant Cranioectodermal dysplasia 1 [RCV000637016] Chr3:129515606 [GRCh38]
Chr3:129234449 [GRCh37]
Chr3:3q22.1
benign|likely benign
NM_052989.3(IFT122):c.978G>A (p.Thr326=) single nucleotide variant not provided [RCV000303023] Chr3:129476476 [GRCh38]
Chr3:129195319 [GRCh37]
Chr3:3q21.3
conflicting interpretations of pathogenicity|uncertain significance
NM_052989.3(IFT122):c.41+15G>T single nucleotide variant Cranioectodermal dysplasia 1 [RCV001148006]|not provided [RCV000339201] Chr3:129440386 [GRCh38]
Chr3:129159229 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.2311_2312del (p.Tyr771fs) deletion not provided [RCV000305830] Chr3:129500004..129500005 [GRCh38]
Chr3:129218847..129218848 [GRCh37]
Chr3:3q22.1
pathogenic
NM_052989.3(IFT122):c.2304G>A (p.Val768=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000262763] Chr3:129499997 [GRCh38]
Chr3:129218840 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.1273C>T (p.Arg425Trp) single nucleotide variant Cranioectodermal dysplasia 1 [RCV001079816]|not provided [RCV000514719]|not specified [RCV000317731] Chr3:129478141 [GRCh38]
Chr3:129196984 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_052989.3(IFT122):c.669C>T (p.Tyr223=) single nucleotide variant not provided [RCV000393842] Chr3:129466995 [GRCh38]
Chr3:129185838 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.617T>C (p.Ile206Thr) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000945510]|not specified [RCV000399070] Chr3:129466943 [GRCh38]
Chr3:129185786 [GRCh37]
Chr3:3q21.3
likely benign
NM_052989.3(IFT122):c.229G>A (p.Val77Ile) single nucleotide variant not provided [RCV000400100] Chr3:129458634 [GRCh38]
Chr3:129177477 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.2035del (p.Ser679fs) deletion not provided [RCV000266504] Chr3:129492183 [GRCh38]
Chr3:129211026 [GRCh37]
Chr3:3q21.3
pathogenic|uncertain significance
NM_052989.3(IFT122):c.3154-42G>A single nucleotide variant not provided [RCV001571687] Chr3:129515446 [GRCh38]
Chr3:129234289 [GRCh37]
Chr3:3q22.1
likely benign
NM_052989.3(IFT122):c.1084C>G (p.Arg362Gly) single nucleotide variant not provided [RCV000596006] Chr3:129476738 [GRCh38]
Chr3:129195581 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.1800C>T (p.Ser600=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000345424] Chr3:129483631 [GRCh38]
Chr3:129202474 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.1148-7T>C single nucleotide variant not provided [RCV000592795] Chr3:129478009 [GRCh38]
Chr3:129196852 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.1976T>C (p.Phe659Ser) single nucleotide variant not provided [RCV000596642] Chr3:129488381 [GRCh38]
Chr3:129207224 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.1503C>T (p.Phe501=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000637017] Chr3:129481544 [GRCh38]
Chr3:129200387 [GRCh37]
Chr3:3q21.3
likely benign
NM_052989.3(IFT122):c.1526T>C (p.Val509Ala) single nucleotide variant Cranioectodermal dysplasia 1 [RCV001432301]|not provided [RCV000731240] Chr3:129481567 [GRCh38]
Chr3:129200410 [GRCh37]
Chr3:3q21.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_052989.3(IFT122):c.778G>C (p.Gly260Arg) single nucleotide variant not provided [RCV000733830] Chr3:129469379 [GRCh38]
Chr3:129188222 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.1488+10C>T single nucleotide variant not provided [RCV000733831] Chr3:129479932 [GRCh38]
Chr3:129198775 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.2828A>G (p.Tyr943Cys) single nucleotide variant not provided [RCV000429099] Chr3:129507704 [GRCh38]
Chr3:129226547 [GRCh37]
Chr3:3q22.1
likely pathogenic
NM_052989.3(IFT122):c.1067A>C (p.His356Pro) single nucleotide variant Cranioectodermal dysplasia 1 [RCV001219618]|not provided [RCV000481881] Chr3:129476721 [GRCh38]
Chr3:129195564 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.183T>G (p.Tyr61Ter) single nucleotide variant not provided [RCV000479189] Chr3:129451988 [GRCh38]
Chr3:129170831 [GRCh37]
Chr3:3q21.3
pathogenic
NM_052989.3(IFT122):c.511C>T (p.Arg171Trp) single nucleotide variant not provided [RCV000478510] Chr3:129464729 [GRCh38]
Chr3:129183572 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.655A>G (p.Lys219Glu) single nucleotide variant not provided [RCV000493214] Chr3:129466981 [GRCh38]
Chr3:129185824 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.2625C>T (p.Asn875=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV001520077]|not provided [RCV000637020] Chr3:129504396 [GRCh38]
Chr3:129223239 [GRCh37]
Chr3:3q22.1
benign
NM_052989.3(IFT122):c.1252G>A (p.Asp418Asn) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000637014] Chr3:129478120 [GRCh38]
Chr3:129196963 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.3462G>A (p.Leu1154=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000637015] Chr3:129519177 [GRCh38]
Chr3:129238020 [GRCh37]
Chr3:3q22.1
benign
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_052989.3(IFT122):c.2682G>A (p.Ala894=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000637019] Chr3:129506440 [GRCh38]
Chr3:129225283 [GRCh37]
Chr3:3q22.1
benign
NM_052989.3(IFT122):c.3023C>T (p.Ala1008Val) single nucleotide variant not provided [RCV000595840] Chr3:129514424 [GRCh38]
Chr3:129233267 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052989.3(IFT122):c.3046C>T (p.Arg1016Trp) single nucleotide variant not provided [RCV000658973] Chr3:129514447 [GRCh38]
Chr3:129233290 [GRCh37]
Chr3:3q22.1
uncertain significance
GRCh37/hg19 3q21.3-22.1(chr3:128660985-129811200)x1 copy number loss not provided [RCV000682304] Chr3:128660985..129811200 [GRCh37]
Chr3:3q21.3-22.1
uncertain significance
NM_052989.3(IFT122):c.349+1G>A single nucleotide variant Cranioectodermal dysplasia 1 [RCV000705197] Chr3:129461305 [GRCh38]
Chr3:129180148 [GRCh37]
Chr3:3q21.3
likely pathogenic
NM_052989.3(IFT122):c.565C>T (p.Arg189Ter) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000705716] Chr3:129466891 [GRCh38]
Chr3:129185734 [GRCh37]
Chr3:3q21.3
pathogenic|conflicting interpretations of pathogenicity
NM_052989.3(IFT122):c.1733dup (p.Lys579fs) duplication not provided [RCV000722329] Chr3:129483563..129483564 [GRCh38]
Chr3:129202406..129202407 [GRCh37]
Chr3:3q21.3
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q21.3-22.1(chr3:129099946-129212271)x1 copy number loss not provided [RCV000742788] Chr3:129099946..129212271 [GRCh37]
Chr3:3q21.3-22.1
benign
NM_052989.3(IFT122):c.1147+10A>T single nucleotide variant not provided [RCV000895928] Chr3:129476811 [GRCh38]
Chr3:129195654 [GRCh37]
Chr3:3q21.3
likely benign
NM_052989.3(IFT122):c.3391+142C>T single nucleotide variant not provided [RCV001574294] Chr3:129517736 [GRCh38]
Chr3:129236579 [GRCh37]
Chr3:3q22.1
likely benign
NM_052989.3(IFT122):c.2017C>T (p.Arg673Ter) single nucleotide variant not provided [RCV000760919] Chr3:129492165 [GRCh38]
Chr3:129211008 [GRCh37]
Chr3:3q21.3
likely pathogenic
NM_052989.3(IFT122):c.3446C>T (p.Pro1149Leu) single nucleotide variant Cranioectodermal dysplasia 1 [RCV001147390] Chr3:129519161 [GRCh38]
Chr3:129238004 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052989.3(IFT122):c.2895G>A (p.Pro965=) single nucleotide variant not provided [RCV000950522] Chr3:129512320 [GRCh38]
Chr3:129231163 [GRCh37]
Chr3:3q22.1
likely benign
NM_052989.3(IFT122):c.516G>T (p.Pro172=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV001472025]|not provided [RCV000945314] Chr3:129464734 [GRCh38]
Chr3:129183577 [GRCh37]
Chr3:3q21.3
likely benign
NM_052989.3(IFT122):c.1629C>T (p.Ile543=) single nucleotide variant not provided [RCV000966568] Chr3:129481670 [GRCh38]
Chr3:129200513 [GRCh37]
Chr3:3q21.3
likely benign
NM_052989.3(IFT122):c.3027C>T (p.Leu1009=) single nucleotide variant not provided [RCV000892793] Chr3:129514428 [GRCh38]
Chr3:129233271 [GRCh37]
Chr3:3q22.1
likely benign
NM_052989.3(IFT122):c.3294G>A (p.Leu1098=) single nucleotide variant not provided [RCV000905816] Chr3:129517497 [GRCh38]
Chr3:129236340 [GRCh37]
Chr3:3q22.1
likely benign
NM_052989.3(IFT122):c.3024C>A (p.Ala1008=) single nucleotide variant not provided [RCV000973211] Chr3:129514425 [GRCh38]
Chr3:129233268 [GRCh37]
Chr3:3q22.1
likely benign
NM_052989.3(IFT122):c.1993-7G>A single nucleotide variant Cranioectodermal dysplasia 1 [RCV000879511] Chr3:129492134 [GRCh38]
Chr3:129210977 [GRCh37]
Chr3:3q21.3
likely benign
NC_000003.12:g.(?_129170453)_(129551340_?)dup duplication not provided [RCV001031235] Chr3:128889296..129270183 [GRCh37]
Chr3:3q21.3-22.1
uncertain significance
NM_052989.3(IFT122):c.1851+5C>T single nucleotide variant Cranioectodermal dysplasia 1 [RCV000812294] Chr3:129483687 [GRCh38]
Chr3:129202530 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.552del (p.Cys183_Trp184insTer) deletion Cranioectodermal dysplasia 1 [RCV000778674] Chr3:129464769 [GRCh38]
Chr3:129183612 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.3232C>T (p.Arg1078Cys) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000778675] Chr3:129515566 [GRCh38]
Chr3:129234409 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052989.3(IFT122):c.1854C>T (p.Ser618=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000878430]|not provided [RCV001573499] Chr3:129488259 [GRCh38]
Chr3:129207102 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_052989.3(IFT122):c.1662C>T (p.Asn554=) single nucleotide variant not provided [RCV000944640] Chr3:129483493 [GRCh38]
Chr3:129202336 [GRCh37]
Chr3:3q21.3
likely benign
NM_052989.3(IFT122):c.2349C>A (p.Ile783=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000878459]|not provided [RCV001567184] Chr3:129500042 [GRCh38]
Chr3:129218885 [GRCh37]
Chr3:3q22.1
benign|likely benign
NM_052989.3(IFT122):c.3594G>T (p.Leu1198=) single nucleotide variant not provided [RCV000878518] Chr3:129519690 [GRCh38]
Chr3:129238533 [GRCh37]
Chr3:3q22.1
likely benign
NM_052989.3(IFT122):c.2209-5C>T single nucleotide variant not provided [RCV000916398] Chr3:129499897 [GRCh38]
Chr3:129218740 [GRCh37]
Chr3:3q21.3
likely benign
NM_052989.3(IFT122):c.2424G>C (p.Leu808=) single nucleotide variant not provided [RCV000903368] Chr3:129502759 [GRCh38]
Chr3:129221602 [GRCh37]
Chr3:3q22.1
likely benign
NM_052989.3(IFT122):c.1821C>A (p.Val607=) single nucleotide variant not provided [RCV000972000] Chr3:129483652 [GRCh38]
Chr3:129202495 [GRCh37]
Chr3:3q21.3
likely benign
NM_052989.3(IFT122):c.2652G>A (p.Ala884=) single nucleotide variant not provided [RCV000972002] Chr3:129506410 [GRCh38]
Chr3:129225253 [GRCh37]
Chr3:3q22.1
likely benign
NM_052989.3(IFT122):c.563+7T>C single nucleotide variant Cranioectodermal dysplasia 1 [RCV000952242] Chr3:129464788 [GRCh38]
Chr3:129183631 [GRCh37]
Chr3:3q21.3
likely benign
NM_052989.3(IFT122):c.2302G>A (p.Val768Met) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000809477] Chr3:129499995 [GRCh38]
Chr3:129218838 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.2941C>T (p.Leu981=) single nucleotide variant not provided [RCV000914999] Chr3:129512366 [GRCh38]
Chr3:129231209 [GRCh37]
Chr3:3q22.1
likely benign
NM_052989.3(IFT122):c.2628T>C (p.Asp876=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000960136] Chr3:129504399 [GRCh38]
Chr3:129223242 [GRCh37]
Chr3:3q22.1
likely benign
NM_052989.3(IFT122):c.618T>G (p.Ile206Met) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000808937] Chr3:129466944 [GRCh38]
Chr3:129185787 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.877G>A (p.Glu293Lys) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000792192] Chr3:129476375 [GRCh38]
Chr3:129195218 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001280545.1(IFT122):c.-746T>A single nucleotide variant Cranioectodermal dysplasia 1 [RCV001147118] Chr3:129440186 [GRCh38]
Chr3:129159029 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.3404T>C (p.Leu1135Pro) single nucleotide variant Cranioectodermal dysplasia 1 [RCV001147389] Chr3:129519119 [GRCh38]
Chr3:129237962 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052989.3(IFT122):c.2575G>C (p.Glu859Gln) single nucleotide variant Cranioectodermal dysplasia 1 [RCV001148215] Chr3:129504346 [GRCh38]
Chr3:129223189 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052989.3(IFT122):c.702_713dup (p.Pro235_Glu238dup) duplication Cranioectodermal dysplasia 1 [RCV001046490] Chr3:129467019..129467020 [GRCh38]
Chr3:129185862..129185863 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.2881C>G (p.His961Asp) single nucleotide variant Cranioectodermal dysplasia 1 [RCV001149768] Chr3:129507757 [GRCh38]
Chr3:129226600 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052989.3(IFT122):c.*142C>G single nucleotide variant Cranioectodermal dysplasia 1 [RCV001148318] Chr3:129520407 [GRCh38]
Chr3:129239250 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052989.3(IFT122):c.1467A>G (p.Leu489=) single nucleotide variant not provided [RCV000979374] Chr3:129479901 [GRCh38]
Chr3:129198744 [GRCh37]
Chr3:3q21.3
likely benign
NM_052989.3(IFT122):c.2393G>A (p.Arg798His) single nucleotide variant Cranioectodermal dysplasia 1 [RCV001148213] Chr3:129502728 [GRCh38]
Chr3:129221571 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052989.3(IFT122):c.2523C>T (p.His841=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV001148214] Chr3:129502858 [GRCh38]
Chr3:129221701 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052989.3(IFT122):c.1940G>A (p.Arg647His) single nucleotide variant Cranioectodermal dysplasia 1 [RCV001149662] Chr3:129488345 [GRCh38]
Chr3:129207188 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.3711T>C (p.Asp1237=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV001148316] Chr3:129520250 [GRCh38]
Chr3:129239093 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052989.3(IFT122):c.*121G>T single nucleotide variant Cranioectodermal dysplasia 1 [RCV001148317] Chr3:129520386 [GRCh38]
Chr3:129239229 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052989.3(IFT122):c.3162G>A (p.Val1054=) single nucleotide variant not provided [RCV000914590] Chr3:129515496 [GRCh38]
Chr3:129234339 [GRCh37]
Chr3:3q22.1
likely benign
NM_052989.3(IFT122):c.752A>G (p.Asn251Ser) single nucleotide variant Cranioectodermal dysplasia 1 [RCV001145256] Chr3:129469353 [GRCh38]
Chr3:129188196 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.349+232A>C single nucleotide variant not provided [RCV001571657] Chr3:129461536 [GRCh38]
Chr3:129180379 [GRCh37]
Chr3:3q21.3
likely benign
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro) single nucleotide variant Cranioectodermal dysplasia 1 [RCV001219619] Chr3:129514432 [GRCh38]
Chr3:129233275 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052989.3(IFT122):c.1570G>A (p.Ala524Thr) single nucleotide variant Cranioectodermal dysplasia 1 [RCV001148107] Chr3:129481611 [GRCh38]
Chr3:129200454 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.3698G>A (p.Arg1233His) single nucleotide variant Cranioectodermal dysplasia 1 [RCV001148315] Chr3:129520237 [GRCh38]
Chr3:129239080 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052989.3(IFT122):c.2375+225C>T single nucleotide variant not provided [RCV001571526] Chr3:129500293 [GRCh38]
Chr3:129219136 [GRCh37]
Chr3:3q22.1
likely benign
NM_052989.3(IFT122):c.563+279C>T single nucleotide variant not provided [RCV001576646] Chr3:129465060 [GRCh38]
Chr3:129183903 [GRCh37]
Chr3:3q21.3
likely benign
NM_052989.3(IFT122):c.272+128G>T single nucleotide variant not provided [RCV001555426] Chr3:129458805 [GRCh38]
Chr3:129177648 [GRCh37]
Chr3:3q21.3
likely benign
NM_052989.3(IFT122):c.2650+315C>G single nucleotide variant not provided [RCV001557668] Chr3:129504736 [GRCh38]
Chr3:129223579 [GRCh37]
Chr3:3q22.1
likely benign
NM_052989.3(IFT122):c.2791+26G>T single nucleotide variant not provided [RCV001563178] Chr3:129506575 [GRCh38]
Chr3:129225418 [GRCh37]
Chr3:3q22.1
likely benign
NM_052989.3(IFT122):c.3265+264A>G single nucleotide variant not provided [RCV001563224] Chr3:129515863 [GRCh38]
Chr3:129234706 [GRCh37]
Chr3:3q22.1
likely benign
NM_052989.3(IFT122):c.1993-281G>A single nucleotide variant not provided [RCV001563420] Chr3:129491860 [GRCh38]
Chr3:129210703 [GRCh37]
Chr3:3q21.3
likely benign
NM_052989.3(IFT122):c.1852-316del deletion not provided [RCV001578247] Chr3:129487940 [GRCh38]
Chr3:129206783 [GRCh37]
Chr3:3q21.3
likely benign
NM_052989.3(IFT122):c.783G>A (p.Gln261=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV001145257]|not provided [RCV000955119] Chr3:129469384 [GRCh38]
Chr3:129188227 [GRCh37]
Chr3:3q21.3
likely benign|uncertain significance
NM_052989.3(IFT122):c.1425C>T (p.Tyr475=) single nucleotide variant not provided [RCV000980051] Chr3:129479859 [GRCh38]
Chr3:129198702 [GRCh37]
Chr3:3q21.3
likely benign
NM_052989.3(IFT122):c.3603C>T (p.Asp1201=) single nucleotide variant not provided [RCV000886705] Chr3:129519699 [GRCh38]
Chr3:129238542 [GRCh37]
Chr3:3q22.1
likely benign
NM_052989.3(IFT122):c.2736T>C (p.Asn912=) single nucleotide variant not provided [RCV000936903] Chr3:129506494 [GRCh38]
Chr3:129225337 [GRCh37]
Chr3:3q22.1
likely benign
NM_052989.3(IFT122):c.3051C>T (p.His1017=) single nucleotide variant not provided [RCV000887549] Chr3:129514452 [GRCh38]
Chr3:129233295 [GRCh37]
Chr3:3q22.1
benign
NM_052989.3(IFT122):c.3144C>T (p.His1048=) single nucleotide variant not provided [RCV000907440] Chr3:129514545 [GRCh38]
Chr3:129233388 [GRCh37]
Chr3:3q22.1
likely benign
NM_052989.3(IFT122):c.1139A>G (p.Glu380Gly) single nucleotide variant Cranioectodermal dysplasia 1 [RCV001435452]|not provided [RCV000932142] Chr3:129476793 [GRCh38]
Chr3:129195636 [GRCh37]
Chr3:3q21.3
likely benign
NM_052989.3(IFT122):c.531G>A (p.Ser177=) single nucleotide variant Cranioectodermal dysplasia 1 [RCV000951963] Chr3:129464749 [GRCh38]
Chr3:129183592 [GRCh37]
Chr3:3q21.3
likely benign
NM_052989.3(IFT122):c.2783T>A (p.Ile928Lys) single nucleotide variant Cranioectodermal dysplasia 1 [RCV001035866] Chr3:129506541 [GRCh38]
Chr3:129225384 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052989.3(IFT122):c.1576C>T (p.Arg526Cys) single nucleotide variant Cranioectodermal dysplasia 1 [RCV001148108] Chr3:129481617 [GRCh38]
Chr3:129200460 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_052989.3(IFT122):c.2389G>A (p.Ala797Thr) single nucleotide variant Cranioectodermal dysplasia 1 [RCV001148212] Chr3:129502724 [GRCh38]
Chr3:129221567 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_052989.3(IFT122):c.2887-8C>T single nucleotide variant not provided [RCV000911507] Chr3:129512304 [GRCh38]
Chr3:129231147 [GRCh37]
Chr3:3q22.1
likely benign
NM_052989.3(IFT122):c.2403C>T (p.Asp801=) single nucleotide variant not provided [RCV000935292] Chr3:129502738 [GRCh38]
Chr3:129221581 [GRCh37]
Chr3:3q22.1
likely benign
NM_052989.3(IFT122):c.1380C>T (p.Ser460=) single nucleotide variant not provided [RCV001540938] Chr3:129479814 [GRCh38]
Chr3:129198657 [GRCh37]
Chr3:3q21.3
likely benign
NM_052989.3(IFT122):c.1992+127C>T single nucleotide variant not provided [RCV001548424] Chr3:129488524 [GRCh38]
Chr3:129207367 [GRCh37]
Chr3:3q21.3
likely benign
NM_052989.3(IFT122):c.1350+54C>T single nucleotide variant not provided [RCV001575814] Chr3:129478272 [GRCh38]
Chr3:129197115 [GRCh37]
Chr3:3q21.3
likely benign
NM_052989.3(IFT122):c.2887-151A>T single nucleotide variant not provided [RCV001546896] Chr3:129512161 [GRCh38]
Chr3:129231004 [GRCh37]
Chr3:3q22.1
likely benign
NM_052989.3(IFT122):c.1992+272C>T single nucleotide variant not provided [RCV001556259] Chr3:129488669 [GRCh38]
Chr3:129207512 [GRCh37]
Chr3:3q21.3
likely benign
NM_052989.3(IFT122):c.273-260T>C single nucleotide variant Cranioectodermal dysplasia 1 [RCV001149545] Chr3:129460968 [GRCh38]
Chr3:129179811 [GRCh37]
Chr3:3q21.3
uncertain significance