SLC5A5 (solute carrier family 5 member 5) - Rat Genome Database

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Gene: SLC5A5 (solute carrier family 5 member 5) Homo sapiens
Analyze
Symbol: SLC5A5
Name: solute carrier family 5 member 5
RGD ID: 731751
HGNC Page HGNC
Description: Exhibits iodide transmembrane transporter activity. Involved in cellular response to cAMP; cellular response to gonadotropin stimulus; and iodide transmembrane transport. Localizes to nucleus and plasma membrane. Implicated in congenital hypothyroidism and thyroid dyshormonogenesis 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: Na(+)/I(-) cotransporter; Na(+)/I(-) symporter; Na(+)/I(-)-symporter; NIS; sodium/iodide cotransporter; solute carrier family 5 (sodium iodide symporter), member 5; solute carrier family 5 (sodium/iodide cotransporter), member 5; solute carrier family 5, member 5; TDH1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1917,871,945 - 17,895,174 (+)EnsemblGRCh38hg38GRCh38
GRCh381917,871,394 - 17,895,175 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371917,982,754 - 18,005,983 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361917,843,782 - 17,865,897 (+)NCBINCBI36hg18NCBI36
Build 341917,843,781 - 17,865,897NCBI
Celera1917,884,497 - 17,907,699 (+)NCBI
Cytogenetic Map19p13.11NCBI
HuRef1917,548,153 - 17,571,202 (+)NCBIHuRef
CHM1_11917,982,521 - 18,005,714 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,3-benzothiazole-2-thiol  (EXP)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,7-dihydropurine-6-thione  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diisothiocyano-trans-stilbene-2,2'-disulfonic acid  (EXP)
5-aza-2'-deoxycytidine  (EXP)
5-azacytidine  (EXP)
5-Nitro-2-(3-phenylpropylamino)benzoic acid  (EXP)
6-propyl-2-thiouracil  (ISO)
9-cis-retinoic acid  (EXP)
acrylamide  (ISO)
adenosine  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
alpha-naphthoflavone  (ISO)
amiodarone  (EXP)
ammonium chloride  (ISO)
ATP  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
Benzo[ghi]perylene  (ISO)
bisphenol A  (ISO)
Butylbenzyl phthalate  (EXP,ISO)
carbamazepine  (EXP)
cisplatin  (ISO)
cobalt dichloride  (ISO)
colforsin daropate hydrochloride  (EXP,ISO)
cortisol  (EXP)
cycloheximide  (EXP)
cyclosporin A  (ISO)
cypermethrin  (EXP)
decabromodiphenyl ether  (ISO)
depsipeptide  (EXP)
dexamethasone  (EXP,ISO)
Di-n-octyl phthalate  (EXP,ISO)
dibutyl phthalate  (EXP)
diiodine  (EXP,ISO)
Diisodecyl phthalate  (EXP,ISO)
doxorubicin  (EXP)
efavirenz  (EXP)
fipronil  (ISO)
furan  (ISO)
genistein  (EXP)
indometacin  (EXP)
iodide salt  (EXP,ISO)
lead diacetate  (ISO)
LY294002  (EXP)
mancozeb  (EXP)
masoprocol  (ISO)
mercaptopurine  (ISO)
methimazole  (EXP,ISO)
metiram  (EXP)
mibolerone  (EXP)
N-acetyl-L-cysteine  (ISO)
N-Vinyl-2-pyrrolidone  (ISO)
nevirapine  (EXP)
ouabain  (EXP)
PCB138  (ISO)
perchlorate  (EXP,ISO)
phenobarbital  (ISO)
purine-6-thiol  (ISO)
quercetin  (EXP,ISO)
resveratrol  (EXP,ISO)
sodium bromide  (EXP)
sodium chlorate  (EXP)
sodium iodide  (EXP,ISO)
sodium perchlorate  (EXP,ISO)
sodium thiocyanate  (EXP)
tazarotene  (EXP)
tebuconazole  (EXP)
technetium atom  (EXP)
tetraoxorhenate(1-)  (EXP)
theophylline  (EXP)
thiocyanate  (EXP)
thyroxine  (ISO)
trichostatin A  (EXP)
triclocarban  (EXP,ISO)
triclosan  (ISO)
triphenyl phosphate  (ISO)
triptonide  (ISO)
troglitazone  (EXP)
valproic acid  (EXP,ISO)
vemurafenib  (EXP)
vorinostat  (EXP)
wortmannin  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

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

Human Phenotype
References

Additional References at PubMed
PMID:1410443   PMID:2249482   PMID:3451231   PMID:3998954   PMID:8806637   PMID:9231811   PMID:9329364   PMID:9388506   PMID:9398697   PMID:9486973   PMID:9492156   PMID:9657379  
PMID:9709973   PMID:9745458   PMID:9814502   PMID:10487695   PMID:10893432   PMID:11170832   PMID:11231356   PMID:11575851   PMID:12021185   PMID:12039073   PMID:12161518   PMID:12351692  
PMID:12475396   PMID:12477932   PMID:12588808   PMID:12602914   PMID:12679487   PMID:12720543   PMID:14630715   PMID:15009910   PMID:15057824   PMID:15062578   PMID:15062579   PMID:15068624  
PMID:15123239   PMID:15215159   PMID:15340050   PMID:15472226   PMID:15489334   PMID:15522214   PMID:15562032   PMID:15919754   PMID:15961562   PMID:15968416   PMID:15976004   PMID:16264365  
PMID:16335670   PMID:16391203   PMID:16954431   PMID:16982034   PMID:16990649   PMID:17164311   PMID:17214887   PMID:17297475   PMID:17408651   PMID:17696829   PMID:17726079   PMID:17854396  
PMID:17938324   PMID:18077370   PMID:18187871   PMID:18202121   PMID:18339708   PMID:18500672   PMID:18509003   PMID:18628528   PMID:18708479   PMID:19029227   PMID:19124451   PMID:19196800  
PMID:19199708   PMID:19241193   PMID:19618116   PMID:19706688   PMID:19916865   PMID:20153805   PMID:20213084   PMID:20479570   PMID:20620544   PMID:20797386   PMID:20961282   PMID:21092238  
PMID:21209020   PMID:21428212   PMID:21521301   PMID:21587211   PMID:21702220   PMID:21873635   PMID:21988488   PMID:21989446   PMID:22157753   PMID:22510021   PMID:22545753   PMID:22781452  
PMID:22954554   PMID:22962269   PMID:22982218   PMID:23117572   PMID:23134812   PMID:23163107   PMID:23174149   PMID:23255420   PMID:23342072   PMID:23404856   PMID:23441638   PMID:23650190  
PMID:23678037   PMID:23690546   PMID:23857380   PMID:23988430   PMID:24052075   PMID:24096868   PMID:24353283   PMID:24432988   PMID:24708099   PMID:24769233   PMID:24884806   PMID:24888603  
PMID:25199743   PMID:25378232   PMID:25465605   PMID:25842835   PMID:25955347   PMID:25960292   PMID:26160439   PMID:26213306   PMID:26282166   PMID:26285906   PMID:26599396   PMID:26831514  
PMID:26960757   PMID:27363025   PMID:27458162   PMID:27562170   PMID:27573304   PMID:28190186   PMID:28319085   PMID:28361851   PMID:28396984   PMID:28493972   PMID:28514442   PMID:28528452  
PMID:29131623   PMID:29631680   PMID:29772533   PMID:29978611   PMID:30053080   PMID:30191346   PMID:30217930   PMID:30280653   PMID:30496374   PMID:31119602   PMID:31196853   PMID:31310151  
PMID:31331356   PMID:31455607   PMID:31672844   PMID:31922240   PMID:32296183   PMID:32451489   PMID:33293661  


Genomics

Comparative Map Data
SLC5A5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1917,871,945 - 17,895,174 (+)EnsemblGRCh38hg38GRCh38
GRCh381917,871,394 - 17,895,175 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371917,982,754 - 18,005,983 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361917,843,782 - 17,865,897 (+)NCBINCBI36hg18NCBI36
Build 341917,843,781 - 17,865,897NCBI
Celera1917,884,497 - 17,907,699 (+)NCBI
Cytogenetic Map19p13.11NCBI
HuRef1917,548,153 - 17,571,202 (+)NCBIHuRef
CHM1_11917,982,521 - 18,005,714 (+)NCBICHM1_1
Slc5a5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39871,335,529 - 71,345,429 (-)NCBIGRCm39mm39
GRCm39 Ensembl871,335,533 - 71,345,401 (-)Ensembl
GRCm38870,882,885 - 70,892,785 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl870,882,889 - 70,892,757 (-)EnsemblGRCm38mm10GRCm38
MGSCv37873,406,788 - 73,416,656 (-)NCBIGRCm37mm9NCBIm37
MGSCv36873,812,491 - 73,821,713 (-)NCBImm8
Celera873,444,192 - 73,454,060 (-)NCBICelera
Cytogenetic Map8B3.3NCBI
Slc5a5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21618,546,709 - 18,556,698 (+)NCBI
Rnor_6.0 Ensembl1620,297,414 - 20,307,400 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01620,297,414 - 20,307,401 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01620,154,958 - 20,164,945 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41619,046,200 - 19,056,281 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11619,046,197 - 19,056,301 (+)NCBI
Celera1618,739,349 - 18,749,322 (+)NCBICelera
Cytogenetic Map16p14NCBI
Slc5a5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555243,372,539 - 3,380,758 (-)NCBIChiLan1.0ChiLan1.0
SLC5A5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11918,327,410 - 18,344,480 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1918,327,410 - 18,344,480 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01917,352,635 - 17,377,130 (+)NCBIMhudiblu_PPA_v0panPan3
SLC5A5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12045,017,939 - 45,030,598 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2045,018,119 - 45,030,209 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2044,930,090 - 44,942,416 (-)NCBI
ROS_Cfam_1.02045,502,644 - 45,514,972 (-)NCBI
UMICH_Zoey_3.12044,739,503 - 44,751,827 (-)NCBI
UNSW_CanFamBas_1.02045,149,996 - 45,162,311 (-)NCBI
UU_Cfam_GSD_1.02045,425,947 - 45,438,272 (-)NCBI
Slc5a5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118203,623,144 - 203,639,908 (-)NCBI
SpeTri2.0NW_0049365963,176,009 - 3,188,637 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC5A5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl259,869,154 - 59,885,265 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1259,869,157 - 59,885,086 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2259,438,591 - 59,454,519 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC5A5
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1616,346,361 - 16,367,833 (+)NCBI
Slc5a5
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249081,401,812 - 1,410,471 (+)NCBI

Position Markers
STS-U66088  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371918,004,674 - 18,004,896UniSTSGRCh37
Build 361917,865,674 - 17,865,896RGDNCBI36
Celera1917,906,390 - 17,906,612RGD
Cytogenetic Map19p13.11UniSTS
HuRef1917,569,888 - 17,570,110UniSTS
GeneMap99-GB4 RH Map19124.1UniSTS
NCBI RH Map19126.2UniSTS
D10S16   No map positions available.
D22S296  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map20q13.32UniSTS
D1S1361  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p21.1-p12.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map17q21UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
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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
D1S1425  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map2p23-p22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic Map2p11.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map3q11.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map15q11-q12UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map4q31.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map15q24-q25UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6q16UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic MapXq21.1UniSTS
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIRLET7F1hsa-let-7f-5pMirtarbaseexternal_infoqRT-PCRNon-Functional MTI (Weak)19956384
MIRLET7F1hsa-let-7f-5pTarbaseexternal_infoqPCRNEGATIVE
MIRLET7F2hsa-let-7f-5pMirtarbaseexternal_infoqRT-PCRNon-Functional MTI (Weak)19956384
MIRLET7F2hsa-let-7f-5pTarbaseexternal_infoqPCRNEGATIVE

Predicted Target Of
Summary Value
Count of predictions:933
Count of miRNA genes:628
Interacting mature miRNAs:698
Transcripts:ENST00000222248, ENST00000597109
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


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 167 227 32 10 1 31 1 15 233 29 1 2
Low 233 84 449 130 500 13 226 31 579 19 545 617 122 1 4 24 2
Below cutoff 1703 2408 738 270 1381 261 3438 1506 2827 245 773 739 21 1035 2213 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB032811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF059566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF260700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ224353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH046063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN115830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U66088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000222248   ⟹   ENSP00000222248
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1917,871,945 - 17,895,174 (+)Ensembl
RefSeq Acc Id: ENST00000597109
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1917,881,979 - 17,888,378 (+)Ensembl
RefSeq Acc Id: NM_000453   ⟹   NP_000444
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,871,945 - 17,895,174 (+)NCBI
GRCh371917,982,641 - 18,005,983 (+)NCBI
Build 361917,843,782 - 17,865,897 (+)NCBI Archive
HuRef1917,548,153 - 17,571,202 (+)ENTREZGENE
CHM1_11917,982,521 - 18,005,714 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011528192   ⟹   XP_011526494
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,871,394 - 17,895,175 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011528193   ⟹   XP_011526495
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,871,398 - 17,895,175 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011528194   ⟹   XP_011526496
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,873,760 - 17,895,175 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017027158   ⟹   XP_016882647
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,871,401 - 17,895,175 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000444   ⟸   NM_000453
- UniProtKB: Q92911 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011526494   ⟸   XM_011528192
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011526495   ⟸   XM_011528193
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011526496   ⟸   XM_011528194
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016882647   ⟸   XM_017027158
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000222248   ⟸   ENST00000222248

Promoters
RGD ID:6796052
Promoter ID:HG_KWN:29271
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour
Transcripts:NM_000453
Position:
Human AssemblyChrPosition (strand)Source
Build 361917,842,786 - 17,843,842 (+)MPROMDB
RGD ID:7239073
Promoter ID:EPDNEW_H25282
Type:initiation region
Name:SLC5A5_1
Description:solute carrier family 5 member 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,871,945 - 17,872,005EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
SLC5A5, EX3-7DEL deletion Thyroid dyshormonogenesis 1 [RCV000008110] Chr19:19p13.2-p12 pathogenic
NM_000453.3(SLC5A5):c.1060A>C (p.Thr354Pro) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000008103] Chr19:17881961 [GRCh38]
Chr19:17992770 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000453.3(SLC5A5):c.816C>A (p.Cys272Ter) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000008104] Chr19:17877840 [GRCh38]
Chr19:17988649 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000453.3(SLC5A5):c.799C>G (p.Gln267Glu) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000008105] Chr19:17877823 [GRCh38]
Chr19:17988632 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000453.3(SLC5A5):c.1593C>G (p.Tyr531Ter) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000008106] Chr19:17888397 [GRCh38]
Chr19:17999206 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000453.3(SLC5A5):c.277G>C (p.Gly93Arg) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000008107] Chr19:17872596 [GRCh38]
Chr19:17983405 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000453.3(SLC5A5):c.1628G>A (p.Gly543Glu) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000008108] Chr19:17888432 [GRCh38]
Chr19:17999241 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000453.3(SLC5A5):c.1183G>A (p.Gly395Arg) single nucleotide variant Congenital hypothyroidism [RCV001270338]|Thyroid dyshormonogenesis 1 [RCV000008109] Chr19:17882160 [GRCh38]
Chr19:17992969 [GRCh37]
Chr19:19p13.11
pathogenic
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3 copy number gain See cases [RCV000050635] Chr19:17176767..34924150 [GRCh38]
Chr19:17287576..35415054 [GRCh37]
Chr19:17148576..40106894 [NCBI36]
Chr19:19p13.11-q13.11
pathogenic
GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3 copy number gain See cases [RCV000052912] Chr19:13974677..27839676 [GRCh38]
Chr19:14085489..28330584 [GRCh37]
Chr19:13946489..33022424 [NCBI36]
Chr19:19p13.12-q11
pathogenic
NM_000453.2(SLC5A5):c.961C>T (p.Pro321Ser) single nucleotide variant Malignant melanoma [RCV000063459] Chr19:17878085 [GRCh38]
Chr19:17988894 [GRCh37]
Chr19:17849894 [NCBI36]
Chr19:19p13.11
not provided
NM_000453.2(SLC5A5):c.962C>T (p.Pro321Leu) single nucleotide variant Malignant melanoma [RCV000063460] Chr19:17878086 [GRCh38]
Chr19:17988895 [GRCh37]
Chr19:17849895 [NCBI36]
Chr19:19p13.11
not provided
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31
pathogenic
GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3 copy number gain See cases [RCV000136696] Chr19:15133594..24193591 [GRCh38]
Chr19:15244405..24376393 [GRCh37]
Chr19:15105405..24168233 [NCBI36]
Chr19:19p13.12-12
pathogenic|likely pathogenic
NM_000453.3(SLC5A5):c.1326A>C (p.Thr442=) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000346211]|not specified [RCV000243585] Chr19:17883764 [GRCh38]
Chr19:17994573 [GRCh37]
Chr19:19p13.11
benign|likely benign
NM_000453.3(SLC5A5):c.1330-18C>G single nucleotide variant not specified [RCV000243646] Chr19:17883832 [GRCh38]
Chr19:17994641 [GRCh37]
Chr19:19p13.11
benign
NM_000453.3(SLC5A5):c.839+11C>T single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001122974]|not specified [RCV000253591] Chr19:17877874 [GRCh38]
Chr19:17988683 [GRCh37]
Chr19:19p13.11
benign|uncertain significance
NM_000453.3(SLC5A5):c.1652-9G>A single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000613147]|not specified [RCV000248822] Chr19:17890877 [GRCh38]
Chr19:18001686 [GRCh37]
Chr19:19p13.11
benign|likely benign
NM_000453.3(SLC5A5):c.1329+18A>G single nucleotide variant not specified [RCV000246700] Chr19:17883785 [GRCh38]
Chr19:17994594 [GRCh37]
Chr19:19p13.11
benign
NM_000453.3(SLC5A5):c.1330-15C>T single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000398649]|not specified [RCV000251864] Chr19:17883835 [GRCh38]
Chr19:17994644 [GRCh37]
Chr19:19p13.11
benign|likely benign
NM_000453.3(SLC5A5):c.252C>T (p.Gly84=) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000281687] Chr19:17872571 [GRCh38]
Chr19:17983380 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*238C>A single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000268881] Chr19:17894115 [GRCh38]
Chr19:18004924 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*826C>A single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000270552] Chr19:17894703 [GRCh38]
Chr19:18005512 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.-53C>T single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000259393] Chr19:17872267 [GRCh38]
Chr19:17983076 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.1506C>G (p.Asn502Lys) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000311413] Chr19:17884026 [GRCh38]
Chr19:17994835 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.-70C>T single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000370579] Chr19:17872250 [GRCh38]
Chr19:17983059 [GRCh37]
Chr19:19p13.11
likely benign|uncertain significance
NM_000453.3(SLC5A5):c.-184C>T single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000275345] Chr19:17872136 [GRCh38]
Chr19:17982945 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.-36C>T single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000316936] Chr19:17872284 [GRCh38]
Chr19:17983093 [GRCh37]
Chr19:19p13.11
likely benign|uncertain significance
NM_000453.3(SLC5A5):c.-24C>A single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000373847] Chr19:17872296 [GRCh38]
Chr19:17983105 [GRCh37]
Chr19:19p13.11
likely benign
NM_000453.3(SLC5A5):c.330C>T (p.Tyr110=) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000320258]|not provided [RCV000913400] Chr19:17872649 [GRCh38]
Chr19:17983458 [GRCh37]
Chr19:19p13.11
likely benign|uncertain significance
NM_000453.3(SLC5A5):c.*898G>A single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000274109] Chr19:17894775 [GRCh38]
Chr19:18005584 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*830C>T single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000327930] Chr19:17894707 [GRCh38]
Chr19:18005516 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*226T>C single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000323427] Chr19:17894103 [GRCh38]
Chr19:18004912 [GRCh37]
Chr19:19p13.11
benign|likely benign
NM_000453.3(SLC5A5):c.424-12C>A single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000285607] Chr19:17874482 [GRCh38]
Chr19:17985291 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*239C>G single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000326242] Chr19:17894116 [GRCh38]
Chr19:18004925 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*256T>C single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000383131] Chr19:17894133 [GRCh38]
Chr19:18004942 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.-107C>A single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000332221] Chr19:17872213 [GRCh38]
Chr19:17983022 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.1314G>A (p.Pro438=) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000289176] Chr19:17883752 [GRCh38]
Chr19:17994561 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.1224C>T (p.Leu408=) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000381252]|not provided [RCV000916423] Chr19:17882201 [GRCh38]
Chr19:17993010 [GRCh37]
Chr19:19p13.11
benign|uncertain significance
NM_000453.3(SLC5A5):c.1626C>T (p.Cys542=) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000390236] Chr19:17888430 [GRCh38]
Chr19:17999239 [GRCh37]
Chr19:19p13.11
likely benign|uncertain significance
NM_000453.3(SLC5A5):c.*161C>T single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000265955] Chr19:17894038 [GRCh38]
Chr19:18004847 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*277T>C single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000394573] Chr19:17894154 [GRCh38]
Chr19:18004963 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.1632C>G (p.Ala544=) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000297537]|not provided [RCV000960082] Chr19:17888436 [GRCh38]
Chr19:17999245 [GRCh37]
Chr19:19p13.11
benign|uncertain significance
NM_000453.3(SLC5A5):c.663G>A (p.Thr221=) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000342867] Chr19:17876071 [GRCh38]
Chr19:17986880 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*14C>T single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000262229] Chr19:17893891 [GRCh38]
Chr19:18004700 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*746C>T single nucleotide variant Thyroid Hormonogenesis Defect [RCV000362806] Chr19:17894623 [GRCh38]
Chr19:18005432 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*130A>G single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000301143] Chr19:17894007 [GRCh38]
Chr19:18004816 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.1507G>A (p.Asp503Asn) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000349869]|not provided [RCV000418584] Chr19:17884027 [GRCh38]
Chr19:17994836 [GRCh37]
Chr19:19p13.11
benign|likely benign
NM_000453.3(SLC5A5):c.*575G>A single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000267369] Chr19:17894452 [GRCh38]
Chr19:18005261 [GRCh37]
Chr19:19p13.11
uncertain significance
GRCh37/hg19 19p13.11-11(chr19:16526787-24631604)x3 copy number gain not provided [RCV000752593] Chr19:16526787..24631604 [GRCh37]
Chr19:19p13.11-11
pathogenic
NM_000453.3(SLC5A5):c.*344C>T single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000302647] Chr19:17894221 [GRCh38]
Chr19:18005030 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*239del deletion Thyroid Hormonogenesis Defect [RCV000380357] Chr19:17894111 [GRCh38]
Chr19:18004920 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*343T>C single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000399585] Chr19:17894220 [GRCh38]
Chr19:18005029 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*1217A>G single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000331561] Chr19:17895094 [GRCh38]
Chr19:18005903 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*606C>T single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000305733] Chr19:17894483 [GRCh38]
Chr19:18005292 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*261dup duplication Thyroid Hormonogenesis Defect [RCV000348356] Chr19:17894137..17894138 [GRCh38]
Chr19:18004946..18004947 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*897C>T single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000384890] Chr19:17894774 [GRCh38]
Chr19:18005583 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*276_*277insCTTT insertion Thyroid Hormonogenesis Defect [RCV000294587] Chr19:17894150..17894151 [GRCh38]
Chr19:18004959..18004960 [GRCh37]
Chr19:19p13.11
likely benign
NM_000453.3(SLC5A5):c.*263del deletion Thyroid Hormonogenesis Defect [RCV000386472] Chr19:17894140 [GRCh38]
Chr19:18004949 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*339C>T single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000337756] Chr19:17894216 [GRCh38]
Chr19:18005025 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*276_*277insCTT insertion Thyroid Hormonogenesis Defect [RCV000352783] Chr19:17894151..17894152 [GRCh38]
Chr19:18004960..18004961 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*289del deletion Thyroid Hormonogenesis Defect [RCV000299130] Chr19:17894166 [GRCh38]
Chr19:18004975 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*136C>G single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000358256] Chr19:17894013 [GRCh38]
Chr19:18004822 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*422C>G single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000359687] Chr19:17894299 [GRCh38]
Chr19:18005108 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.357+5C>T single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000377233] Chr19:17872681 [GRCh38]
Chr19:17983490 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*258del deletion Thyroid Hormonogenesis Defect [RCV000291031] Chr19:17894135 [GRCh38]
Chr19:18004944 [GRCh37]
Chr19:19p13.11
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NC_000019.9:g.17981993_18043097dup duplication Primary amenorrhea [RCV000754467] Chr19:17871184..17932288 [GRCh38]
Chr19:17981993..18043097 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.1497C>G (p.Leu499=) single nucleotide variant not provided [RCV000939316] Chr19:17884017 [GRCh38]
Chr19:17994826 [GRCh37]
Chr19:19p13.11
likely benign
NM_000453.3(SLC5A5):c.1058+8C>T single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001124042]|not provided [RCV000950485] Chr19:17880961 [GRCh38]
Chr19:17991770 [GRCh37]
Chr19:19p13.11
benign|uncertain significance
NM_000453.3(SLC5A5):c.489C>T (p.Asp163=) single nucleotide variant not provided [RCV000921220] Chr19:17874677 [GRCh38]
Chr19:17985486 [GRCh37]
Chr19:19p13.11
likely benign
NM_000453.3(SLC5A5):c.1785C>T (p.Pro595=) single nucleotide variant not provided [RCV000917519] Chr19:17893730 [GRCh38]
Chr19:18004539 [GRCh37]
Chr19:19p13.11
likely benign
NM_000453.3(SLC5A5):c.720C>T (p.Ser240=) single nucleotide variant not provided [RCV000881137] Chr19:17877744 [GRCh38]
Chr19:17988553 [GRCh37]
Chr19:19p13.11
likely benign
NM_000453.3(SLC5A5):c.1080T>C (p.Asn360=) single nucleotide variant not provided [RCV000910413] Chr19:17881981 [GRCh38]
Chr19:17992790 [GRCh37]
Chr19:19p13.11
likely benign
NM_000453.3(SLC5A5):c.333C>T (p.Arg111=) single nucleotide variant not provided [RCV000943237] Chr19:17872652 [GRCh38]
Chr19:17983461 [GRCh37]
Chr19:19p13.11
likely benign
NM_000453.3(SLC5A5):c.168C>T (p.Ala56=) single nucleotide variant not provided [RCV000914667] Chr19:17872487 [GRCh38]
Chr19:17983296 [GRCh37]
Chr19:19p13.11
likely benign
NM_000453.3(SLC5A5):c.561G>A (p.Val187=) single nucleotide variant not provided [RCV000920920] Chr19:17875969 [GRCh38]
Chr19:17986778 [GRCh37]
Chr19:19p13.11
likely benign
NM_000453.3(SLC5A5):c.892T>G (p.Cys298Gly) single nucleotide variant not provided [RCV000974307] Chr19:17878016 [GRCh38]
Chr19:17988825 [GRCh37]
Chr19:19p13.11
likely benign
NM_000453.3(SLC5A5):c.73C>T (p.Leu25=) single nucleotide variant not provided [RCV000924703] Chr19:17872392 [GRCh38]
Chr19:17983201 [GRCh37]
Chr19:19p13.11
likely benign
GRCh37/hg19 19p13.11(chr19:17921282-18025754)x3 copy number gain not provided [RCV000847969] Chr19:17921282..18025754 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.222G>A (p.Leu74=) single nucleotide variant not provided [RCV000918532] Chr19:17872541 [GRCh38]
Chr19:17983350 [GRCh37]
Chr19:19p13.11
likely benign
NM_000453.3(SLC5A5):c.*645C>G single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001126809] Chr19:17894522 [GRCh38]
Chr19:18005331 [GRCh37]
Chr19:19p13.11
likely benign
NM_000453.3(SLC5A5):c.792G>T (p.Ala264=) single nucleotide variant not provided [RCV000918876] Chr19:17877816 [GRCh38]
Chr19:17988625 [GRCh37]
Chr19:19p13.11
likely benign
NM_000453.3(SLC5A5):c.466C>T (p.Leu156=) single nucleotide variant not provided [RCV000933194] Chr19:17874536 [GRCh38]
Chr19:17985345 [GRCh37]
Chr19:19p13.11
likely benign
NM_000453.3(SLC5A5):c.1701C>T (p.Leu567=) single nucleotide variant not provided [RCV000907529] Chr19:17890935 [GRCh38]
Chr19:18001744 [GRCh37]
Chr19:19p13.11
likely benign
NM_000453.3(SLC5A5):c.-46G>A single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001126605] Chr19:17872274 [GRCh38]
Chr19:17983083 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*720G>A single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001126810] Chr19:17894597 [GRCh38]
Chr19:18005406 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.1768-11C>T single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001127099] Chr19:17893702 [GRCh38]
Chr19:18004511 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*862C>T single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001127214] Chr19:17894739 [GRCh38]
Chr19:18005548 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.862G>A (p.Gly288Ser) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001122977] Chr19:17877986 [GRCh38]
Chr19:17988795 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*17G>A single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001123063] Chr19:17893894 [GRCh38]
Chr19:18004703 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*215C>T single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001123064] Chr19:17894092 [GRCh38]
Chr19:18004901 [GRCh37]
Chr19:19p13.11
likely benign
NM_000453.3(SLC5A5):c.357+11G>A single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001128659] Chr19:17872687 [GRCh38]
Chr19:17983496 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.358-7C>A single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001128660] Chr19:17874131 [GRCh38]
Chr19:17984940 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.958G>A (p.Ala320Thr) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001124041] Chr19:17878082 [GRCh38]
Chr19:17988891 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.1780C>T (p.Leu594Phe) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001127101]|not provided [RCV000913434] Chr19:17893725 [GRCh38]
Chr19:18004534 [GRCh37]
Chr19:19p13.11
likely benign|uncertain significance
NM_000453.3(SLC5A5):c.984G>C (p.Leu328=) single nucleotide variant not provided [RCV000913477] Chr19:17880879 [GRCh38]
Chr19:17991688 [GRCh37]
Chr19:19p13.11
likely benign
NM_000453.3(SLC5A5):c.1275C>T (p.Gly425=) single nucleotide variant not provided [RCV000913433] Chr19:17883713 [GRCh38]
Chr19:17994522 [GRCh37]
Chr19:19p13.11
benign
NM_000453.3(SLC5A5):c.546C>T (p.Gly182=) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001128663]|not provided [RCV000958009] Chr19:17875954 [GRCh38]
Chr19:17986763 [GRCh37]
Chr19:19p13.11
benign|likely benign
NM_000453.3(SLC5A5):c.861C>T (p.Val287=) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001122976]|not provided [RCV000958010] Chr19:17877985 [GRCh38]
Chr19:17988794 [GRCh37]
Chr19:19p13.11
benign
NM_000453.3(SLC5A5):c.-54C>T single nucleotide variant Thyroid dyshormonogenesis 1 [RCV000990185] Chr19:17872266 [GRCh38]
Chr19:17983075 [GRCh37]
Chr19:19p13.11
conflicting interpretations of pathogenicity|uncertain significance
NM_000453.3(SLC5A5):c.1176C>T (p.Leu392=) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001124044] Chr19:17882153 [GRCh38]
Chr19:17992962 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*410G>T single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001124136] Chr19:17894287 [GRCh38]
Chr19:18005096 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.423+13G>A single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001128661] Chr19:17874216 [GRCh38]
Chr19:17985025 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.649C>T (p.Arg217Cys) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001128664] Chr19:17876057 [GRCh38]
Chr19:17986866 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.1084A>T (p.Met362Leu) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001124043] Chr19:17881985 [GRCh38]
Chr19:17992794 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.19G>A (p.Gly7Arg) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001126607] Chr19:17872338 [GRCh38]
Chr19:17983147 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.296T>C (p.Val99Ala) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001126608] Chr19:17872615 [GRCh38]
Chr19:17983424 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*1136G>A single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001127218] Chr19:17895013 [GRCh38]
Chr19:18005822 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.17C>T (p.Thr6Ile) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001126606] Chr19:17872336 [GRCh38]
Chr19:17983145 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*987G>C single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001127215] Chr19:17894864 [GRCh38]
Chr19:18005673 [GRCh37]
Chr19:19p13.11
likely benign
NM_000453.3(SLC5A5):c.*1027A>G single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001127216] Chr19:17894904 [GRCh38]
Chr19:18005713 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.839+13G>A single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001122975] Chr19:17877876 [GRCh38]
Chr19:17988685 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.1192T>C (p.Cys398Arg) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001124045] Chr19:17882169 [GRCh38]
Chr19:17992978 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*353C>T single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001124135] Chr19:17894230 [GRCh38]
Chr19:18005039 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.794A>G (p.Gln265Arg) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001175133] Chr19:17877818 [GRCh38]
Chr19:17988627 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_000453.3(SLC5A5):c.435C>T (p.Thr145=) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001128662] Chr19:17874505 [GRCh38]
Chr19:17985314 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.1340C>G (p.Ala447Gly) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001126705] Chr19:17883860 [GRCh38]
Chr19:17994669 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.1421G>A (p.Arg474Lys) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001126706] Chr19:17883941 [GRCh38]
Chr19:17994750 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*551G>A single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001126808] Chr19:17894428 [GRCh38]
Chr19:18005237 [GRCh37]
Chr19:19p13.11
likely benign
NM_000453.3(SLC5A5):c.*1248C>T single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001123147] Chr19:17895125 [GRCh38]
Chr19:18005934 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.1643G>A (p.Cys548Tyr) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001127096] Chr19:17888447 [GRCh38]
Chr19:17999256 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.1651+7A>C single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001127097] Chr19:17888462 [GRCh38]
Chr19:17999271 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.1725C>T (p.Ala575=) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001127098] Chr19:17890959 [GRCh38]
Chr19:18001768 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.1768-10T>A single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001127100] Chr19:17893703 [GRCh38]
Chr19:18004512 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*1135C>T single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001127217] Chr19:17895012 [GRCh38]
Chr19:18005821 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.657G>A (p.Val219=) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001122971] Chr19:17876065 [GRCh38]
Chr19:17986874 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*228A>G single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001123065] Chr19:17894105 [GRCh38]
Chr19:18004914 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*1273A>G single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001123148] Chr19:17895150 [GRCh38]
Chr19:18005959 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.*1282C>A single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001123149] Chr19:17895159 [GRCh38]
Chr19:18005968 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.915G>A (p.Val305=) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001124040] Chr19:17878039 [GRCh38]
Chr19:17988848 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.672G>A (p.Gln224=) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001122972] Chr19:17876080 [GRCh38]
Chr19:17986889 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_000453.3(SLC5A5):c.686T>G (p.Ile229Ser) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001122973] Chr19:17876094 [GRCh38]
Chr19:17986903 [GRCh37]
Chr19:19p13.11
uncertain significance
GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3 copy number gain not provided [RCV001259370] Chr19:14286624..20956753 [GRCh37]
Chr19:19p13.12-12
pathogenic
NM_000453.3(SLC5A5):c.152del (p.Gly51fs) deletion Thyroid dyshormonogenesis 1 [RCV001263164] Chr19:17872467 [GRCh38]
Chr19:17983276 [GRCh37]
Chr19:19p13.11
pathogenic
NM_000453.3(SLC5A5):c.1261G>A (p.Gly421Arg) single nucleotide variant Thyroid dyshormonogenesis 1 [RCV001263165] Chr19:17883699 [GRCh38]
Chr19:17994508 [GRCh37]
Chr19:19p13.11
pathogenic
GRCh37/hg19 19p13.11(chr19:17639605-17992841)x3 copy number gain not provided [RCV001259369] Chr19:17639605..17992841 [GRCh37]
Chr19:19p13.11
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11040 AgrOrtholog
COSMIC SLC5A5 COSMIC
Ensembl Genes ENSG00000105641 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000222248 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000222248 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1730.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000105641 GTEx
HGNC ID HGNC:11040 ENTREZGENE
Human Proteome Map SLC5A5 Human Proteome Map
InterPro Na/Glc_symporter_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Na/solute_symporter UniProtKB/Swiss-Prot
  Na/solute_symporter_CS UniProtKB/Swiss-Prot
  SLC5A5 UniProtKB/Swiss-Prot
KEGG Report hsa:6528 UniProtKB/Swiss-Prot
NCBI Gene 6528 ENTREZGENE
OMIM 274400 OMIM
  601843 OMIM
Pfam SSF UniProtKB/Swiss-Prot
PharmGKB PA35905 PharmGKB, RGD
PROSITE NA_SOLUT_SYMP_1 UniProtKB/Swiss-Prot
  NA_SOLUT_SYMP_3 UniProtKB/Swiss-Prot
TIGRFAMs sss UniProtKB/Swiss-Prot
UniProt A0A2U8QNU8_HUMAN UniProtKB/TrEMBL
  A0A5P9KGQ3_HUMAN UniProtKB/TrEMBL
  Q92911 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary O43702 UniProtKB/Swiss-Prot
  Q2M335 UniProtKB/Swiss-Prot
  Q9NYB6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-08 SLC5A5  solute carrier family 5 member 5    solute carrier family 5 (sodium/iodide cotransporter), member 5  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC5A5  solute carrier family 5 (sodium/iodide cotransporter), member 5    solute carrier family 5 (sodium iodide symporter), member 5  Symbol and/or name change 5135510 APPROVED