SLC13A3 (solute carrier family 13 member 3) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: SLC13A3 (solute carrier family 13 member 3) Homo sapiens
Analyze
Symbol: SLC13A3
Name: solute carrier family 13 member 3
RGD ID: 69657
HGNC Page HGNC:14430
Description: Enables dicarboxylic acid transmembrane transporter activity and glutathione transmembrane transporter activity. Involved in glutathione transmembrane transport and succinate transmembrane transport. Located in basolateral plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ARLIAK; hNaDC3; Na(+)-coupled carboxylate transporter 3; Na(+)/dicarboxylate cotransporter 3; NaC3; naDC-3; NADC3; SDCT2; sodium-dependent high affinity dicarboxylate transporter 3; sodium-dependent high-affinity dicarboxylate transporter 2; solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3
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
GRCh382046,557,828 - 46,684,485 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2046,557,823 - 46,684,467 (-)EnsemblGRCh38hg38GRCh38
GRCh372045,186,467 - 45,313,124 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362044,619,870 - 44,746,514 (-)NCBINCBI36Build 36hg18NCBI36
Build 342044,619,869 - 44,713,505NCBI
Celera2041,897,908 - 42,024,605 (-)NCBICelera
Cytogenetic Map20q13.12ENTREZGENE
HuRef2041,927,384 - 42,054,359 (-)NCBIHuRef
CHM1_12045,089,076 - 45,216,112 (-)NCBICHM1_1
T2T-CHM13v2.02048,293,974 - 48,420,764 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,3-dinitrobenzene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP,ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
choline  (ISO)
cisplatin  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
cyproconazole  (ISO)
dexamethasone  (ISO)
dichloroacetic acid  (ISO)
diclofenac  (ISO)
dieldrin  (ISO)
diethylstilbestrol  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
ether  (ISO)
flutamide  (ISO)
folic acid  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
glyphosate  (ISO)
graphite  (ISO)
GW 4064  (ISO)
indole-3-methanol  (ISO)
isoflurane  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
levofloxacin  (ISO)
lidocaine  (ISO)
lipopolysaccharide  (EXP,ISO)
Monobutylphthalate  (ISO)
N-nitrosodiethylamine  (ISO)
nitrofen  (ISO)
ozone  (ISO)
paracetamol  (ISO)
pentobarbital  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenformin  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
pravastatin  (ISO)
propanal  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
succinic acid  (EXP,ISO)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
toluene  (ISO)
trichloroethene  (ISO)
Triptolide  (ISO)
trovafloxacin  (ISO)
valproic acid  (EXP,ISO)
vanadyl sulfate  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)
zaragozic acid A  (ISO)
zidovudine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10794676   PMID:10992006   PMID:11780052   PMID:12477932   PMID:12915942   PMID:14702039   PMID:15146197   PMID:15342556   PMID:15489334   PMID:15561973   PMID:16211368   PMID:16331647  
PMID:16344560   PMID:18029348   PMID:18602983   PMID:19056867   PMID:20813124   PMID:21264516   PMID:21653829   PMID:21865262   PMID:21873635   PMID:21873665   PMID:24247155   PMID:24351856  
PMID:24623722   PMID:24667918   PMID:25354943   PMID:26176240   PMID:27053689   PMID:30280653   PMID:30635937   PMID:32296183   PMID:36696070   PMID:36724073   PMID:37794328  


Genomics

Comparative Map Data
SLC13A3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382046,557,828 - 46,684,485 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2046,557,823 - 46,684,467 (-)EnsemblGRCh38hg38GRCh38
GRCh372045,186,467 - 45,313,124 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362044,619,870 - 44,746,514 (-)NCBINCBI36Build 36hg18NCBI36
Build 342044,619,869 - 44,713,505NCBI
Celera2041,897,908 - 42,024,605 (-)NCBICelera
Cytogenetic Map20q13.12ENTREZGENE
HuRef2041,927,384 - 42,054,359 (-)NCBIHuRef
CHM1_12045,089,076 - 45,216,112 (-)NCBICHM1_1
T2T-CHM13v2.02048,293,974 - 48,420,764 (-)NCBIT2T-CHM13v2.0
Slc13a3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392165,247,215 - 165,315,117 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2165,246,948 - 165,315,150 (-)EnsemblGRCm39 Ensembl
GRCm382165,405,295 - 165,473,197 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2165,405,028 - 165,473,230 (-)EnsemblGRCm38mm10GRCm38
MGSCv372165,230,795 - 165,298,697 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362165,096,500 - 165,164,402 (-)NCBIMGSCv36mm8
Celera2171,347,492 - 171,415,775 (-)NCBICelera
Cytogenetic Map2H3NCBI
cM Map285.54NCBI
Slc13a3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83174,561,174 - 174,623,893 (-)NCBIGRCr8
mRatBN7.23154,141,878 - 154,204,604 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3154,141,872 - 154,204,606 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3157,950,554 - 158,014,103 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03166,449,536 - 166,513,085 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03164,191,155 - 164,254,719 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03162,084,336 - 162,147,398 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3162,084,315 - 162,147,393 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03168,266,585 - 168,329,647 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43156,447,900 - 156,510,620 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13156,353,929 - 156,416,658 (-)NCBI
Celera3152,740,642 - 152,803,198 (-)NCBICelera
Cytogenetic Map3q42NCBI
Slc13a3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544510,755,312 - 10,831,900 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544510,755,336 - 10,829,797 (+)NCBIChiLan1.0ChiLan1.0
SLC13A3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22152,293,088 - 52,405,943 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12052,286,193 - 52,399,047 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02042,890,251 - 43,018,635 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12043,975,373 - 44,101,788 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2043,977,568 - 44,068,886 (-)Ensemblpanpan1.1panPan2
SLC13A3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12433,810,594 - 33,884,169 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2433,809,731 - 33,884,139 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2433,269,702 - 33,344,444 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02434,518,068 - 34,593,024 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2434,518,081 - 34,593,006 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12433,775,187 - 33,849,803 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02433,891,902 - 33,966,700 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02434,430,790 - 34,505,677 (-)NCBIUU_Cfam_GSD_1.0
Slc13a3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640191,100,938 - 191,140,371 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365146,554,608 - 6,592,671 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365146,554,605 - 6,594,014 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC13A3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1748,714,183 - 48,792,141 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11748,714,180 - 48,792,280 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21754,563,504 - 54,593,504 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC13A3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1217,233,287 - 17,324,761 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl217,233,346 - 17,324,951 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605065,843,126 - 65,967,625 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc13a3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247908,028,103 - 8,105,871 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247908,028,054 - 8,104,123 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC13A3
192 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 copy number gain See cases [RCV000053035] Chr20:44787704..64277321 [GRCh38]
Chr20:43416345..62908674 [GRCh37]
Chr20:42849759..62379118 [NCBI36]
Chr20:20q13.12-13.33		 pathogenic
NM_022829.6(SLC13A3):c.292A>T (p.Ile98Phe) single nucleotide variant not provided [RCV000054635] Chr20:46613545 [GRCh38]
Chr20:45242184 [GRCh37]
Chr20:20q13.12		 benign|uncertain significance
NM_001011554.2(SLC13A3):c.1572C>T (p.Phe524=) single nucleotide variant Malignant melanoma [RCV000072664] Chr20:46560118 [GRCh38]
Chr20:45188757 [GRCh37]
Chr20:44622164 [NCBI36]
Chr20:20q13.12		 not provided
NM_001011554.2(SLC13A3):c.1342C>T (p.Leu448=) single nucleotide variant Malignant melanoma [RCV000072665] Chr20:46566240 [GRCh38]
Chr20:45194879 [GRCh37]
Chr20:44628286 [NCBI36]
Chr20:20q13.12		 not provided
NM_022829.6(SLC13A3):c.1076G>A (p.Arg359Gln) single nucleotide variant Inborn genetic diseases [RCV003162146]|not provided [RCV003121175] Chr20:46588104 [GRCh38]
Chr20:45216743 [GRCh37]
Chr20:44650150 [NCBI36]
Chr20:20q13.12		 uncertain significance|not provided
NM_001011554.2(SLC13A3):c.576C>T (p.Pro192=) single nucleotide variant Malignant melanoma [RCV000072667] Chr20:46596234 [GRCh38]
Chr20:45224873 [GRCh37]
Chr20:44658280 [NCBI36]
Chr20:20q13.12		 not provided
NM_001011554.2(SLC13A3):c.575C>T (p.Pro192Leu) single nucleotide variant Malignant melanoma [RCV000072668] Chr20:46596235 [GRCh38]
Chr20:45224874 [GRCh37]
Chr20:44658281 [NCBI36]
Chr20:20q13.12		 not provided
NM_001011554.2(SLC13A3):c.400+1524C>T single nucleotide variant Malignant melanoma [RCV000072669] Chr20:46608922 [GRCh38]
Chr20:45237561 [GRCh37]
Chr20:44670968 [NCBI36]
Chr20:20q13.12		 not provided
NM_001011554.2(SLC13A3):c.1354-108C>T single nucleotide variant Lung cancer [RCV000101617] Chr20:46563659 [GRCh38]
Chr20:45192298 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001011554.2(SLC13A3):c.-30-24163G>C single nucleotide variant Lung cancer [RCV000101618] Chr20:46637888 [GRCh38]
Chr20:45266527 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1637G>A (p.Arg546Gln) single nucleotide variant Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate [RCV001329924]|Malignant tumor of prostate [RCV000149301]|not provided [RCV002516002] Chr20:46560194 [GRCh38]
Chr20:45188833 [GRCh37]
Chr20:20q13.12		 uncertain significance
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1 copy number loss See cases [RCV000140816] Chr20:35237946..47631818 [GRCh38]
Chr20:33825749..46260562 [GRCh37]
Chr20:33289165..45693969 [NCBI36]
Chr20:20q11.22-13.12		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_022829.6(SLC13A3):c.248C>T (p.Pro83Leu) single nucleotide variant Inborn genetic diseases [RCV003261627] Chr20:46613589 [GRCh38]
Chr20:45242228 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1513C>T (p.His505Tyr) single nucleotide variant Inborn genetic diseases [RCV003273726] Chr20:46563533 [GRCh38]
Chr20:45192172 [GRCh37]
Chr20:20q13.12		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_022829.6(SLC13A3):c.761C>A (p.Ala254Asp) single nucleotide variant Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate [RCV000767376] Chr20:46596190 [GRCh38]
Chr20:45224829 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_022829.6(SLC13A3):c.1016+3A>G single nucleotide variant Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate [RCV000767378]|not provided [RCV001869054] Chr20:46589157 [GRCh38]
Chr20:45217796 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022829.6(SLC13A3):c.1642G>A (p.Gly548Ser) single nucleotide variant Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate [RCV000767377] Chr20:46560189 [GRCh38]
Chr20:45188828 [GRCh37]
Chr20:20q13.12		 pathogenic
GRCh37/hg19 20q13.12(chr20:45002981-45243034)x3 copy number gain not provided [RCV000848203] Chr20:45002981..45243034 [GRCh37]
Chr20:20q13.12		 uncertain significance
Single allele deletion Focal-onset seizure [RCV001004039] Chr20:34980430..46806549 [GRCh37]
Chr20:20q11.23-13.13		 likely pathogenic
NM_022829.6(SLC13A3):c.1106G>A (p.Ser369Asn) single nucleotide variant Inborn genetic diseases [RCV002546362]|Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate [RCV001329923] Chr20:46588074 [GRCh38]
Chr20:45216713 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.207C>G (p.Leu69=) single nucleotide variant Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate [RCV001807411]|SLC13A3-related condition [RCV003980597]|not provided [RCV001520780] Chr20:46613630 [GRCh38]
Chr20:45242269 [GRCh37]
Chr20:20q13.12		 benign
NM_022829.6(SLC13A3):c.54G>A (p.Leu18=) single nucleotide variant not provided [RCV001449562] Chr20:46651368 [GRCh38]
Chr20:45280007 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.1458G>C (p.Ala486=) single nucleotide variant SLC13A3-related condition [RCV003966121]|not provided [RCV001519406] Chr20:46566265 [GRCh38]
Chr20:45194904 [GRCh37]
Chr20:20q13.12		 benign
NM_022829.6(SLC13A3):c.1278C>T (p.Pro426=) single nucleotide variant Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate [RCV001807406]|SLC13A3-related condition [RCV003980579]|not provided [RCV001519407] Chr20:46575627 [GRCh38]
Chr20:45204266 [GRCh37]
Chr20:20q13.12		 benign
NM_022829.6(SLC13A3):c.1035T>A (p.Val345=) single nucleotide variant not provided [RCV001509781] Chr20:46588145 [GRCh38]
Chr20:45216784 [GRCh37]
Chr20:20q13.12		 benign
NM_022829.6(SLC13A3):c.908G>C (p.Gly303Ala) single nucleotide variant SLC13A3-related condition [RCV003921080]|not provided [RCV001511493] Chr20:46592416 [GRCh38]
Chr20:45221055 [GRCh37]
Chr20:20q13.12		 benign
NM_022829.6(SLC13A3):c.753G>A (p.Thr251=) single nucleotide variant not provided [RCV001438131] Chr20:46596198 [GRCh38]
Chr20:45224837 [GRCh37]
Chr20:20q13.12		 likely benign
GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1 copy number loss Developmental and epileptic encephalopathy, 26 [RCV001801198] Chr20:42985044..48599046 [GRCh37]
Chr20:20q13.12-13.13		 pathogenic
NM_022829.6(SLC13A3):c.679C>G (p.Arg227Gly) single nucleotide variant not provided [RCV001896735] Chr20:46596272 [GRCh38]
Chr20:45224911 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.544G>A (p.Ala182Thr) single nucleotide variant not provided [RCV001911640] Chr20:46600035 [GRCh38]
Chr20:45228674 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.974G>A (p.Arg325Gln) single nucleotide variant not provided [RCV001949097] Chr20:46589202 [GRCh38]
Chr20:45217841 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.790A>G (p.Lys264Glu) single nucleotide variant not provided [RCV002042669] Chr20:46596161 [GRCh38]
Chr20:45224800 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1115A>G (p.Asn372Ser) single nucleotide variant not provided [RCV001926389] Chr20:46588065 [GRCh38]
Chr20:45216704 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1691A>C (p.Asn564Thr) single nucleotide variant not provided [RCV002039402] Chr20:46560140 [GRCh38]
Chr20:45188779 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.173C>T (p.Pro58Leu) single nucleotide variant not provided [RCV002003618] Chr20:46613664 [GRCh38]
Chr20:45242303 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1365G>T (p.Gln455His) single nucleotide variant not provided [RCV001912833] Chr20:46566358 [GRCh38]
Chr20:45194997 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1075C>T (p.Arg359Trp) single nucleotide variant Inborn genetic diseases [RCV003355669]|not provided [RCV001967410] Chr20:46588105 [GRCh38]
Chr20:45216744 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1024G>A (p.Glu342Lys) single nucleotide variant not provided [RCV001926664] Chr20:46588156 [GRCh38]
Chr20:45216795 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.118C>G (p.Arg40Gly) single nucleotide variant not provided [RCV001910481] Chr20:46613719 [GRCh38]
Chr20:45242358 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.55G>C (p.Val19Leu) single nucleotide variant not provided [RCV001926799] Chr20:46651367 [GRCh38]
Chr20:45280006 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.186G>A (p.Thr62=) single nucleotide variant not provided [RCV001966959] Chr20:46613651 [GRCh38]
Chr20:45242290 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1360G>A (p.Gly454Arg) single nucleotide variant not provided [RCV001889934] Chr20:46566363 [GRCh38]
Chr20:45195002 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1757A>G (p.Asn586Ser) single nucleotide variant Inborn genetic diseases [RCV003355638]|Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate [RCV003492699]|not provided [RCV001910123] Chr20:46560074 [GRCh38]
Chr20:45188713 [GRCh37]
Chr20:20q13.12		 uncertain significance
NC_000020.10:g.(?_45228590)_(45228696_?)dup duplication not provided [RCV001923212] Chr20:45228590..45228696 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.121T>G (p.Cys41Gly) single nucleotide variant not provided [RCV001943562] Chr20:46613716 [GRCh38]
Chr20:45242355 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.619C>G (p.Pro207Ala) single nucleotide variant not provided [RCV001954076] Chr20:46596332 [GRCh38]
Chr20:45224971 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.328C>T (p.Arg110Trp) single nucleotide variant Inborn genetic diseases [RCV003247145]|not provided [RCV001916483] Chr20:46613509 [GRCh38]
Chr20:45242148 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1147G>A (p.Val383Met) single nucleotide variant not provided [RCV001956986] Chr20:46583644 [GRCh38]
Chr20:45212283 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.623G>A (p.Gly208Glu) single nucleotide variant not provided [RCV001917048] Chr20:46596328 [GRCh38]
Chr20:45224967 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.50T>C (p.Leu17Pro) single nucleotide variant not provided [RCV001934843] Chr20:46651372 [GRCh38]
Chr20:45280011 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1241C>T (p.Pro414Leu) single nucleotide variant not provided [RCV002017286] Chr20:46575664 [GRCh38]
Chr20:45204303 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1519del (p.Leu507fs) deletion not provided [RCV002034055] Chr20:46563527 [GRCh38]
Chr20:45192166 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1748A>T (p.Tyr583Phe) single nucleotide variant not provided [RCV001952688] Chr20:46560083 [GRCh38]
Chr20:45188722 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.86C>T (p.Pro29Leu) single nucleotide variant Inborn genetic diseases [RCV002571251]|Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate [RCV003339862]|not provided [RCV001961419] Chr20:46651336 [GRCh38]
Chr20:45279975 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.32T>C (p.Val11Ala) single nucleotide variant not provided [RCV002018580] Chr20:46651390 [GRCh38]
Chr20:45280029 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.767A>G (p.Asn256Ser) single nucleotide variant not provided [RCV001931334] Chr20:46596184 [GRCh38]
Chr20:45224823 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.903C>T (p.Tyr301=) single nucleotide variant SLC13A3-related condition [RCV003951163]|not provided [RCV002076142] Chr20:46592421 [GRCh38]
Chr20:45221060 [GRCh37]
Chr20:20q13.12		 benign|likely benign
NM_022829.6(SLC13A3):c.303C>T (p.Ser101=) single nucleotide variant not provided [RCV002089770] Chr20:46613534 [GRCh38]
Chr20:45242173 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.541+20T>C single nucleotide variant not provided [RCV002092457] Chr20:46610426 [GRCh38]
Chr20:45239065 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.541+14A>G single nucleotide variant not provided [RCV002128308] Chr20:46610432 [GRCh38]
Chr20:45239071 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.1344G>A (p.Leu448=) single nucleotide variant not provided [RCV002105808] Chr20:46566379 [GRCh38]
Chr20:45195018 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.1311C>T (p.Phe437=) single nucleotide variant not provided [RCV002107883] Chr20:46575594 [GRCh38]
Chr20:45204233 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.351G>T (p.Leu117=) single nucleotide variant not provided [RCV002111588] Chr20:46613486 [GRCh38]
Chr20:45242125 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.1134T>C (p.Asp378=) single nucleotide variant not provided [RCV002144969] Chr20:46583657 [GRCh38]
Chr20:45212296 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.1179G>A (p.Pro393=) single nucleotide variant not provided [RCV002113240] Chr20:46583612 [GRCh38]
Chr20:45212251 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.957T>C (p.Asn319=) single nucleotide variant not provided [RCV002116170] Chr20:46589219 [GRCh38]
Chr20:45217858 [GRCh37]
Chr20:20q13.12		 benign
NM_022829.6(SLC13A3):c.1659G>C (p.Leu553=) single nucleotide variant not provided [RCV002116631] Chr20:46560172 [GRCh38]
Chr20:45188811 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.987G>A (p.Arg329=) single nucleotide variant not provided [RCV002114440] Chr20:46589189 [GRCh38]
Chr20:45217828 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.1333-4G>T single nucleotide variant SLC13A3-related condition [RCV003978700]|not provided [RCV002116017] Chr20:46566394 [GRCh38]
Chr20:45195033 [GRCh37]
Chr20:20q13.12		 benign
NM_022829.6(SLC13A3):c.1518C>G (p.Pro506=) single nucleotide variant not provided [RCV002116070] Chr20:46563528 [GRCh38]
Chr20:45192167 [GRCh37]
Chr20:20q13.12		 benign
NM_022829.6(SLC13A3):c.1272A>G (p.Thr424=) single nucleotide variant not provided [RCV002131842] Chr20:46575633 [GRCh38]
Chr20:45204272 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.102C>G (p.Leu34=) single nucleotide variant not provided [RCV002220810] Chr20:46651320 [GRCh38]
Chr20:45279959 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.336C>T (p.Ile112=) single nucleotide variant not provided [RCV002135778] Chr20:46613501 [GRCh38]
Chr20:45242140 [GRCh37]
Chr20:20q13.12		 benign
NM_022829.6(SLC13A3):c.794+9G>T single nucleotide variant not provided [RCV002198932] Chr20:46596148 [GRCh38]
Chr20:45224787 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.412T>C (p.Leu138=) single nucleotide variant not provided [RCV002164747] Chr20:46610575 [GRCh38]
Chr20:45239214 [GRCh37]
Chr20:20q13.12		 benign
NM_022829.6(SLC13A3):c.1602C>T (p.Phe534=) single nucleotide variant not provided [RCV002121526] Chr20:46563444 [GRCh38]
Chr20:45192083 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.66C>T (p.Phe22=) single nucleotide variant not provided [RCV002177774] Chr20:46651356 [GRCh38]
Chr20:45279995 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.1632+13del deletion not provided [RCV002179638] Chr20:46563401 [GRCh38]
Chr20:45192040 [GRCh37]
Chr20:20q13.12		 benign
NM_022829.6(SLC13A3):c.1002C>T (p.Asn334=) single nucleotide variant not provided [RCV002217353] Chr20:46589174 [GRCh38]
Chr20:45217813 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.525G>A (p.Glu175=) single nucleotide variant not provided [RCV002141960] Chr20:46610462 [GRCh38]
Chr20:45239101 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.594C>T (p.Leu198=) single nucleotide variant not provided [RCV002162931] Chr20:46599985 [GRCh38]
Chr20:45228624 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.794+9G>A single nucleotide variant not provided [RCV002162299] Chr20:46596148 [GRCh38]
Chr20:45224787 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.1632+20A>G single nucleotide variant not provided [RCV002140284] Chr20:46563394 [GRCh38]
Chr20:45192033 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.118C>T (p.Arg40Cys) single nucleotide variant not provided [RCV002137571] Chr20:46613719 [GRCh38]
Chr20:45242358 [GRCh37]
Chr20:20q13.12		 benign
NM_022829.6(SLC13A3):c.813C>T (p.Asp271=) single nucleotide variant not provided [RCV002141352] Chr20:46592511 [GRCh38]
Chr20:45221150 [GRCh37]
Chr20:20q13.12		 benign
NM_022829.6(SLC13A3):c.1507A>C (p.Arg503=) single nucleotide variant not provided [RCV002156844] Chr20:46563539 [GRCh38]
Chr20:45192178 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.1121+18C>T single nucleotide variant not provided [RCV002202816] Chr20:46588041 [GRCh38]
Chr20:45216680 [GRCh37]
Chr20:20q13.12		 benign
NM_022829.6(SLC13A3):c.1146C>T (p.Gly382=) single nucleotide variant not provided [RCV003110565] Chr20:46583645 [GRCh38]
Chr20:45212284 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.145G>A (p.Ala49Thr) single nucleotide variant not provided [RCV003110223] Chr20:46613692 [GRCh38]
Chr20:45242331 [GRCh37]
Chr20:20q13.12		 uncertain significance
NC_000020.10:g.(?_45279930)_(45358147_?)dup duplication not provided [RCV003122972] Chr20:45279930..45358147 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1571C>T (p.Pro524Leu) single nucleotide variant not provided [RCV003121286] Chr20:46563475 [GRCh38]
Chr20:45192114 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1804C>T (p.Leu602Phe) single nucleotide variant not provided [RCV002297706] Chr20:46560027 [GRCh38]
Chr20:45188666 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.950G>C (p.Arg317Thr) single nucleotide variant not provided [RCV002903113] Chr20:46589226 [GRCh38]
Chr20:45217865 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.236A>G (p.Asn79Ser) single nucleotide variant not provided [RCV002838948] Chr20:46613601 [GRCh38]
Chr20:45242240 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1636C>T (p.Arg546Trp) single nucleotide variant not provided [RCV002616148] Chr20:46560195 [GRCh38]
Chr20:45188834 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1235C>T (p.Thr412Ile) single nucleotide variant not provided [RCV002616509] Chr20:46575670 [GRCh38]
Chr20:45204309 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1219+8G>T single nucleotide variant not provided [RCV002751331] Chr20:46583564 [GRCh38]
Chr20:45212203 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.202G>A (p.Val68Ile) single nucleotide variant not provided [RCV002618029] Chr20:46613635 [GRCh38]
Chr20:45242274 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.578C>T (p.Thr193Met) single nucleotide variant not provided [RCV002993490] Chr20:46600001 [GRCh38]
Chr20:45228640 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.112-10C>T single nucleotide variant not provided [RCV002863021] Chr20:46613735 [GRCh38]
Chr20:45242374 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.990A>G (p.Glu330=) single nucleotide variant not provided [RCV002904087] Chr20:46589186 [GRCh38]
Chr20:45217825 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.523G>A (p.Glu175Lys) single nucleotide variant not provided [RCV002615410] Chr20:46610464 [GRCh38]
Chr20:45239103 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.378-9G>A single nucleotide variant not provided [RCV002862539] Chr20:46610618 [GRCh38]
Chr20:45239257 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.147G>A (p.Ala49=) single nucleotide variant not provided [RCV002685766] Chr20:46613690 [GRCh38]
Chr20:45242329 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.1408C>T (p.Leu470Phe) single nucleotide variant not provided [RCV002731390] Chr20:46566315 [GRCh38]
Chr20:45194954 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1143C>T (p.Thr381=) single nucleotide variant not provided [RCV002976658] Chr20:46583648 [GRCh38]
Chr20:45212287 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.342C>G (p.Leu114=) single nucleotide variant not provided [RCV002735250] Chr20:46613495 [GRCh38]
Chr20:45242134 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.6G>A (p.Ala2=) single nucleotide variant not provided [RCV002952594] Chr20:46651416 [GRCh38]
Chr20:45280055 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1333-4G>A single nucleotide variant not provided [RCV002949435] Chr20:46566394 [GRCh38]
Chr20:45195033 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.1110C>T (p.Leu370=) single nucleotide variant not provided [RCV002640128] Chr20:46588070 [GRCh38]
Chr20:45216709 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.857T>C (p.Met286Thr) single nucleotide variant not provided [RCV002593447] Chr20:46592467 [GRCh38]
Chr20:45221106 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.878G>C (p.Gly293Ala) single nucleotide variant not provided [RCV002691026] Chr20:46592446 [GRCh38]
Chr20:45221085 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.904G>A (p.Gly302Arg) single nucleotide variant not provided [RCV002621776] Chr20:46592420 [GRCh38]
Chr20:45221059 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.551G>A (p.Arg184Gln) single nucleotide variant Inborn genetic diseases [RCV003001743] Chr20:46600028 [GRCh38]
Chr20:45228667 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.825C>T (p.Phe275=) single nucleotide variant not provided [RCV002591398] Chr20:46592499 [GRCh38]
Chr20:45221138 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.1163T>A (p.Ile388Asn) single nucleotide variant not provided [RCV003038726] Chr20:46583628 [GRCh38]
Chr20:45212267 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1463T>C (p.Ile488Thr) single nucleotide variant not provided [RCV002695489] Chr20:46566260 [GRCh38]
Chr20:45194899 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1730C>T (p.Pro577Leu) single nucleotide variant not provided [RCV002659043] Chr20:46560101 [GRCh38]
Chr20:45188740 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1392C>T (p.Pro464=) single nucleotide variant SLC13A3-related condition [RCV003916699]|not provided [RCV002979659] Chr20:46566331 [GRCh38]
Chr20:45194970 [GRCh37]
Chr20:20q13.12		 benign|likely benign
NM_022829.6(SLC13A3):c.1062C>T (p.Ile354=) single nucleotide variant not provided [RCV002621685] Chr20:46588118 [GRCh38]
Chr20:45216757 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.777G>T (p.Leu259=) single nucleotide variant not provided [RCV003052995] Chr20:46596174 [GRCh38]
Chr20:45224813 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.1543G>A (p.Val515Ile) single nucleotide variant Inborn genetic diseases [RCV002919391] Chr20:46563503 [GRCh38]
Chr20:45192142 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.9G>T (p.Ala3=) single nucleotide variant not provided [RCV002666916] Chr20:46651413 [GRCh38]
Chr20:45280052 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.668A>T (p.Glu223Val) single nucleotide variant not provided [RCV002667628] Chr20:46596283 [GRCh38]
Chr20:45224922 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1083G>A (p.Pro361=) single nucleotide variant not provided [RCV002645751] Chr20:46588097 [GRCh38]
Chr20:45216736 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.795-12G>T single nucleotide variant not provided [RCV002790583] Chr20:46592541 [GRCh38]
Chr20:45221180 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.1388C>T (p.Pro463Leu) single nucleotide variant not provided [RCV002745876] Chr20:46566335 [GRCh38]
Chr20:45194974 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.795-12G>A single nucleotide variant not provided [RCV002576379] Chr20:46592541 [GRCh38]
Chr20:45221180 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.144G>A (p.Met48Ile) single nucleotide variant not provided [RCV002623921] Chr20:46613693 [GRCh38]
Chr20:45242332 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.558C>T (p.Asn186=) single nucleotide variant not provided [RCV002663544] Chr20:46600021 [GRCh38]
Chr20:45228660 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.919A>T (p.Arg307Trp) single nucleotide variant not provided [RCV002574602] Chr20:46592405 [GRCh38]
Chr20:45221044 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.650C>T (p.Pro217Leu) single nucleotide variant not provided [RCV002800807] Chr20:46596301 [GRCh38]
Chr20:45224940 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1220-17del deletion not provided [RCV002625826] Chr20:46575702 [GRCh38]
Chr20:45204341 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.1796T>A (p.Phe599Tyr) single nucleotide variant not provided [RCV003042078] Chr20:46560035 [GRCh38]
Chr20:45188674 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.682C>T (p.Arg228Trp) single nucleotide variant not provided [RCV002572795] Chr20:46596269 [GRCh38]
Chr20:45224908 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.314A>G (p.Glu105Gly) single nucleotide variant not provided [RCV002626098] Chr20:46613523 [GRCh38]
Chr20:45242162 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.242T>G (p.Val81Gly) single nucleotide variant not provided [RCV002829243] Chr20:46613595 [GRCh38]
Chr20:45242234 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.786G>A (p.Gln262=) single nucleotide variant not provided [RCV002765431] Chr20:46596165 [GRCh38]
Chr20:45224804 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.1533T>G (p.Ile511Met) single nucleotide variant not provided [RCV002966518] Chr20:46563513 [GRCh38]
Chr20:45192152 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1384G>A (p.Val462Met) single nucleotide variant not provided [RCV002895867] Chr20:46566339 [GRCh38]
Chr20:45194978 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.1798C>T (p.Arg600Trp) single nucleotide variant not provided [RCV003088698] Chr20:46560033 [GRCh38]
Chr20:45188672 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1121+15A>G single nucleotide variant not provided [RCV002597701] Chr20:46588044 [GRCh38]
Chr20:45216683 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.68C>T (p.Thr23Met) single nucleotide variant not provided [RCV002581243] Chr20:46651354 [GRCh38]
Chr20:45279993 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.205C>T (p.Leu69Phe) single nucleotide variant not provided [RCV002628301] Chr20:46613632 [GRCh38]
Chr20:45242271 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1333-5C>T single nucleotide variant not provided [RCV002579351] Chr20:46566395 [GRCh38]
Chr20:45195034 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.1144G>A (p.Gly382Ser) single nucleotide variant not provided [RCV003087965] Chr20:46583647 [GRCh38]
Chr20:45212286 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1109T>C (p.Leu370Pro) single nucleotide variant not provided [RCV003063878] Chr20:46588071 [GRCh38]
Chr20:45216710 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1748A>C (p.Tyr583Ser) single nucleotide variant not provided [RCV002577752] Chr20:46560083 [GRCh38]
Chr20:45188722 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.135C>T (p.Ile45=) single nucleotide variant not provided [RCV002856758] Chr20:46613702 [GRCh38]
Chr20:45242341 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.1033_1035del (p.Val345del) deletion not provided [RCV003047918] Chr20:46588145..46588147 [GRCh38]
Chr20:45216784..45216786 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1720G>A (p.Gly574Ser) single nucleotide variant not provided [RCV002579961] Chr20:46560111 [GRCh38]
Chr20:45188750 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.97G>T (p.Ala33Ser) single nucleotide variant Inborn genetic diseases [RCV002832741] Chr20:46651325 [GRCh38]
Chr20:45279964 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.15AGC[3] (p.Ala8_Lys9insAla) microsatellite not provided [RCV002835320] Chr20:46651401..46651402 [GRCh38]
Chr20:45280040..45280041 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1546G>A (p.Gly516Ser) single nucleotide variant not provided [RCV002604154] Chr20:46563500 [GRCh38]
Chr20:45192139 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.371C>T (p.Pro124Leu) single nucleotide variant Inborn genetic diseases [RCV002723552] Chr20:46613466 [GRCh38]
Chr20:45242105 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.587A>G (p.Gln196Arg) single nucleotide variant not provided [RCV002654499] Chr20:46599992 [GRCh38]
Chr20:45228631 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1197C>A (p.Leu399=) single nucleotide variant not provided [RCV002606228] Chr20:46583594 [GRCh38]
Chr20:45212233 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1478C>T (p.Pro493Leu) single nucleotide variant Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate [RCV003229502] Chr20:46566245 [GRCh38]
Chr20:45194884 [GRCh37]
Chr20:20q13.12		 likely pathogenic
NM_022829.6(SLC13A3):c.595G>A (p.Ala199Thr) single nucleotide variant not provided [RCV003873420] Chr20:46599984 [GRCh38]
Chr20:45228623 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.188C>T (p.Ala63Val) single nucleotide variant not provided [RCV003872958] Chr20:46613649 [GRCh38]
Chr20:45242288 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.541+1540A>C single nucleotide variant not provided [RCV003440426] Chr20:46608906 [GRCh38]
Chr20:45237545 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.731T>C (p.Ile244Thr) single nucleotide variant not provided [RCV003876265] Chr20:46596220 [GRCh38]
Chr20:45224859 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.634G>T (p.Val212Phe) single nucleotide variant not provided [RCV003829815] Chr20:46596317 [GRCh38]
Chr20:45224956 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1371C>T (p.His457=) single nucleotide variant not provided [RCV003713181] Chr20:46566352 [GRCh38]
Chr20:45194991 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.1632+6T>C single nucleotide variant not provided [RCV003576216] Chr20:46563408 [GRCh38]
Chr20:45192047 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1426G>A (p.Ala476Thr) single nucleotide variant not provided [RCV003831071] Chr20:46566297 [GRCh38]
Chr20:45194936 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.692G>A (p.Trp231Ter) single nucleotide variant not provided [RCV003687162] Chr20:46596259 [GRCh38]
Chr20:45224898 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.185C>T (p.Thr62Met) single nucleotide variant not provided [RCV003881369] Chr20:46613652 [GRCh38]
Chr20:45242291 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1167_1169del (p.Leu389del) deletion not provided [RCV003691323] Chr20:46583622..46583624 [GRCh38]
Chr20:45212261..45212263 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.51G>C (p.Leu17=) single nucleotide variant not provided [RCV003852006] Chr20:46651371 [GRCh38]
Chr20:45280010 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.337G>A (p.Ala113Thr) single nucleotide variant not provided [RCV003836328] Chr20:46613500 [GRCh38]
Chr20:45242139 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.891C>T (p.Ile297=) single nucleotide variant not provided [RCV003561493] Chr20:46592433 [GRCh38]
Chr20:45221072 [GRCh37]
Chr20:20q13.12		 benign
NM_022829.6(SLC13A3):c.1169T>A (p.Phe390Tyr) single nucleotide variant not provided [RCV003559093] Chr20:46583622 [GRCh38]
Chr20:45212261 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.496A>C (p.Lys166Gln) single nucleotide variant not provided [RCV003725657] Chr20:46610491 [GRCh38]
Chr20:45239130 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1417G>A (p.Val473Met) single nucleotide variant not provided [RCV003724973] Chr20:46566306 [GRCh38]
Chr20:45194945 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.994T>A (p.Tyr332Asn) single nucleotide variant not provided [RCV003814653] Chr20:46589182 [GRCh38]
Chr20:45217821 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.835T>C (p.Phe279Leu) single nucleotide variant not provided [RCV003560352] Chr20:46592489 [GRCh38]
Chr20:45221128 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1333-16G>A single nucleotide variant not provided [RCV003667526] Chr20:46566406 [GRCh38]
Chr20:45195045 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.112-15C>A single nucleotide variant not provided [RCV003672701] Chr20:46613740 [GRCh38]
Chr20:45242379 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.237C>A (p.Asn79Lys) single nucleotide variant not provided [RCV003733134] Chr20:46613600 [GRCh38]
Chr20:45242239 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.618C>G (p.His206Gln) single nucleotide variant not provided [RCV003862170] Chr20:46596333 [GRCh38]
Chr20:45224972 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.804G>A (p.Pro268=) single nucleotide variant not provided [RCV003730695] Chr20:46592520 [GRCh38]
Chr20:45221159 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.1745T>G (p.Met582Arg) single nucleotide variant not provided [RCV003870810] Chr20:46560086 [GRCh38]
Chr20:45188725 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.331C>T (p.Arg111Ter) single nucleotide variant not provided [RCV003852922] Chr20:46613506 [GRCh38]
Chr20:45242145 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.579G>A (p.Thr193=) single nucleotide variant not provided [RCV003733355] Chr20:46600000 [GRCh38]
Chr20:45228639 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.1457C>T (p.Ala486Val) single nucleotide variant not provided [RCV003819290] Chr20:46566266 [GRCh38]
Chr20:45194905 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1495-19C>T single nucleotide variant not provided [RCV003553334] Chr20:46563570 [GRCh38]
Chr20:45192209 [GRCh37]
Chr20:20q13.12		 likely benign
NM_022829.6(SLC13A3):c.194T>G (p.Leu65Arg) single nucleotide variant not provided [RCV003722839] Chr20:46613643 [GRCh38]
Chr20:45242282 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.1737G>A (p.Trp579Ter) single nucleotide variant not provided [RCV003334238] Chr20:46560094 [GRCh38]
Chr20:45188733 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_022829.6(SLC13A3):c.814G>A (p.Val272Met) single nucleotide variant Inborn genetic diseases [RCV003357567] Chr20:46592510 [GRCh38]
Chr20:45221149 [GRCh37]
Chr20:20q13.12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6551
Count of miRNA genes:1076
Interacting mature miRNAs:1302
Transcripts:ENST00000279027, ENST00000290317, ENST00000339636, ENST00000372121, ENST00000396360, ENST00000413164, ENST00000417157, ENST00000420568, ENST00000435032, ENST00000450298, ENST00000464518, ENST00000468915, ENST00000472148, ENST00000495082
Prediction methods:Microtar, 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.

Markers in Region
D20S886  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,251,232 - 45,251,386UniSTSGRCh37
Build 362044,684,639 - 44,684,793RGDNCBI36
Celera2041,962,714 - 41,962,862RGD
Cytogenetic Map20q13.12UniSTS
HuRef2041,992,585 - 41,992,731UniSTS
Marshfield Genetic Map2066.16RGD
Marshfield Genetic Map2066.16UniSTS
Genethon Genetic Map2065.5UniSTS
deCODE Assembly Map2071.06UniSTS
Stanford-G3 RH Map202344.0UniSTS
GeneMap99-GB4 RH Map20262.46UniSTS
NCBI RH Map20474.0UniSTS
GeneMap99-G3 RH Map202377.0UniSTS
RH79978  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,314,176 - 45,314,383UniSTSGRCh37
Build 362044,747,583 - 44,747,790RGDNCBI36
Celera2042,025,657 - 42,025,864RGD
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map20q13.12UniSTS
HuRef2042,055,411 - 42,055,618UniSTS
RH98928  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,186,601 - 45,186,786UniSTSGRCh37
Build 362044,620,008 - 44,620,193RGDNCBI36
Celera2041,898,047 - 41,898,236RGD
Cytogenetic Map20q13.12UniSTS
HuRef2041,927,523 - 41,927,712UniSTS
GeneMap99-GB4 RH Map20261.0UniSTS
G43492  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,186,491 - 45,186,621UniSTSGRCh37
Build 362044,619,898 - 44,620,028RGDNCBI36
Celera2041,897,937 - 41,898,067RGD
Cytogenetic Map20q13.12UniSTS
HuRef2041,927,413 - 41,927,543UniSTS
SHGC-150948  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,251,097 - 45,251,375UniSTSGRCh37
Build 362044,684,504 - 44,684,782RGDNCBI36
Celera2041,962,579 - 41,962,851RGD
Cytogenetic Map20q13.12UniSTS
HuRef2041,992,450 - 41,992,720UniSTS
TNG Radiation Hybrid Map2021187.0UniSTS
TNG Radiation Hybrid Map280909.0UniSTS
D20S1114  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,237,446 - 45,237,577UniSTSGRCh37
Build 362044,670,853 - 44,670,984RGDNCBI36
Celera2041,948,921 - 41,949,052RGD
Cytogenetic Map20q13.12UniSTS
HuRef2041,978,876 - 41,979,007UniSTS
GeneMap99-GB4 RH Map20261.0UniSTS
GeneMap99-G3 RH Map202377.0UniSTS
D20S577E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,305,933 - 45,306,131UniSTSGRCh37
GRCh372045,304,928 - 45,306,131UniSTSGRCh37
Build 362044,739,340 - 44,739,538RGDNCBI36
Celera2042,016,409 - 42,017,612UniSTS
Celera2042,017,414 - 42,017,612RGD
Cytogenetic Map20q13.12UniSTS
HuRef2042,046,163 - 42,047,366UniSTS
HuRef2042,047,168 - 42,047,366UniSTS
GeneMap99-GB4 RH Map20261.21UniSTS
NCBI RH Map20492.2UniSTS
D20S565E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,187,163 - 45,187,253UniSTSGRCh37
Build 362044,620,570 - 44,620,660RGDNCBI36
Celera2041,898,613 - 41,898,703RGD
Cytogenetic Map20q13.12UniSTS
HuRef2041,928,089 - 41,928,179UniSTS
GeneMap99-GB4 RH Map20261.0UniSTS
RH66073  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,237,448 - 45,237,577UniSTSGRCh37
Build 362044,670,855 - 44,670,984RGDNCBI36
Celera2041,948,923 - 41,949,052RGD
Cytogenetic Map20q13.12UniSTS
HuRef2041,978,878 - 41,979,007UniSTS
GeneMap99-GB4 RH Map20261.0UniSTS
A004V36  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,187,103 - 45,187,344UniSTSGRCh37
Build 362044,620,510 - 44,620,751RGDNCBI36
Celera2041,898,553 - 41,898,794RGD
Cytogenetic Map20q13.12UniSTS
HuRef2041,928,029 - 41,928,270UniSTS
GeneMap99-GB4 RH Map20261.11UniSTS
Whitehead-RH Map20297.6UniSTS
NCBI RH Map20487.3UniSTS
G27374  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,313,081 - 45,313,209UniSTSGRCh37
Build 362044,746,488 - 44,746,616RGDNCBI36
Celera2042,024,562 - 42,024,690RGD
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map20q13.12UniSTS
HuRef2042,054,316 - 42,054,444UniSTS
RH45751  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,313,125 - 45,313,286UniSTSGRCh37
Build 362044,746,532 - 44,746,693RGDNCBI36
Celera2042,024,606 - 42,024,767RGD
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map20q13.12UniSTS
HuRef2042,054,360 - 42,054,521UniSTS
GeneMap99-GB4 RH Map20273.15UniSTS
D20S957  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,305,848 - 45,306,027UniSTSGRCh37
GRCh372045,304,843 - 45,305,022UniSTSGRCh37
Build 362044,738,250 - 44,738,429RGDNCBI36
Celera2042,016,324 - 42,016,503RGD
Celera2042,017,329 - 42,017,508UniSTS
HuRef2042,047,083 - 42,047,262UniSTS
HuRef2042,046,078 - 42,046,257UniSTS
GeneMap99-GB4 RH Map20262.42UniSTS
Whitehead-RH Map20297.6UniSTS
Whitehead-YAC Contig Map20 UniSTS
NCBI RH Map20492.2UniSTS
AFMB305XD9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,277,511 - 45,277,665UniSTSGRCh37
Build 362044,710,918 - 44,711,072RGDNCBI36
Celera2041,988,989 - 41,989,143RGD
Cytogenetic Map20q13.12UniSTS
HuRef2042,018,744 - 42,018,898UniSTS
Whitehead-YAC Contig Map20 UniSTS
AL031467  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,310,707 - 45,310,842UniSTSGRCh37
Build 362044,744,114 - 44,744,249RGDNCBI36
Celera2042,022,188 - 42,022,323RGD
Cytogenetic Map20q13.12UniSTS
HuRef2042,051,942 - 42,052,077UniSTS
WI-14322  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372045,187,097 - 45,187,197UniSTSGRCh37
Build 362044,620,504 - 44,620,604RGDNCBI36
Celera2041,898,547 - 41,898,647RGD
Cytogenetic Map20q13.12UniSTS
HuRef2041,928,023 - 41,928,123UniSTS
GeneMap99-GB4 RH Map20261.11UniSTS
Whitehead-RH Map20297.7UniSTS


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
High
Medium 15 79 71 7 71 397 2 700 150 80 22 1 294 5
Low 1859 1594 1606 518 262 364 3344 1177 2976 180 1293 1456 165 1 1123 1938
Below cutoff 513 1339 39 31 1485 26 611 1007 43 79 55 93 9 81 556

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001011554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF154121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL034424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL442082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY072810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM474324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP358260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ946167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB997336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN310376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA272524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA334816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA503319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA636764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000279027   ⟹   ENSP00000279027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,557,828 - 46,651,459 (-)Ensembl
RefSeq Acc Id: ENST00000290317   ⟹   ENSP00000290317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,557,823 - 46,670,139 (-)Ensembl
RefSeq Acc Id: ENST00000372121   ⟹   ENSP00000361193
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,588,143 - 46,684,467 (-)Ensembl
RefSeq Acc Id: ENST00000413164   ⟹   ENSP00000415852
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,559,711 - 46,651,459 (-)Ensembl
RefSeq Acc Id: ENST00000417157   ⟹   ENSP00000397955
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,608,709 - 46,670,139 (-)Ensembl
RefSeq Acc Id: ENST00000420568   ⟹   ENSP00000395095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,585,348 - 46,613,725 (-)Ensembl
RefSeq Acc Id: ENST00000450298   ⟹   ENSP00000394217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,583,572 - 46,600,616 (-)Ensembl
RefSeq Acc Id: ENST00000464518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,582,911 - 46,588,091 (-)Ensembl
RefSeq Acc Id: ENST00000468915   ⟹   ENSP00000417784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,566,356 - 46,676,075 (-)Ensembl
RefSeq Acc Id: ENST00000472148   ⟹   ENSP00000420177
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,558,429 - 46,670,139 (-)Ensembl
RefSeq Acc Id: ENST00000495082   ⟹   ENSP00000419621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,559,994 - 46,613,886 (-)Ensembl
RefSeq Acc Id: NM_001011554   ⟹   NP_001011554
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,557,828 - 46,684,485 (-)NCBI
GRCh372045,186,462 - 45,313,124 (-)NCBI
Build 362044,619,870 - 44,746,514 (-)NCBI Archive
HuRef2041,927,384 - 42,054,359 (-)ENTREZGENE
CHM1_12045,089,076 - 45,216,112 (-)NCBI
T2T-CHM13v2.02048,293,974 - 48,420,764 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001193339   ⟹   NP_001180268
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,557,828 - 46,651,459 (-)NCBI
GRCh372045,186,462 - 45,313,124 (-)ENTREZGENE
HuRef2041,927,384 - 42,054,359 (-)ENTREZGENE
CHM1_12045,089,076 - 45,183,154 (-)NCBI
T2T-CHM13v2.02048,293,974 - 48,387,642 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001193340   ⟹   NP_001180269
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,557,828 - 46,684,485 (-)NCBI
GRCh372045,186,462 - 45,313,124 (-)NCBI
HuRef2041,927,384 - 42,054,359 (-)ENTREZGENE
CHM1_12045,089,076 - 45,216,112 (-)NCBI
T2T-CHM13v2.02048,293,974 - 48,420,764 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001193342   ⟹   NP_001180271
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,557,828 - 46,651,459 (-)NCBI
GRCh372045,186,462 - 45,313,124 (-)ENTREZGENE
HuRef2041,927,384 - 42,054,359 (-)ENTREZGENE
CHM1_12045,089,076 - 45,183,154 (-)NCBI
T2T-CHM13v2.02048,293,974 - 48,387,642 (-)NCBI
Sequence:
RefSeq Acc Id: NM_022829   ⟹   NP_073740
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,557,828 - 46,651,459 (-)NCBI
GRCh372045,186,462 - 45,313,124 (-)ENTREZGENE
Build 362044,619,870 - 44,713,505 (-)NCBI Archive
HuRef2041,927,384 - 42,054,359 (-)ENTREZGENE
CHM1_12045,089,076 - 45,183,154 (-)NCBI
T2T-CHM13v2.02048,293,974 - 48,387,642 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001180269   ⟸   NM_001193340
- Peptide Label: isoform d
- UniProtKB: B4DF27 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001011554   ⟸   NM_001011554
- Peptide Label: isoform b
- UniProtKB: B4DF27 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001180271   ⟸   NM_001193342
- Peptide Label: isoform e
- UniProtKB: B4DF27 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001180268   ⟸   NM_001193339
- Peptide Label: isoform c precursor
- UniProtKB: Q8WWT9 (UniProtKB/Swiss-Prot),   B4DF27 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_073740   ⟸   NM_022829
- Peptide Label: isoform a precursor
- UniProtKB: Q9NQN5 (UniProtKB/Swiss-Prot),   Q9H3W4 (UniProtKB/Swiss-Prot),   Q9H1G1 (UniProtKB/Swiss-Prot),   Q9BR25 (UniProtKB/Swiss-Prot),   Q96MM5 (UniProtKB/Swiss-Prot),   Q8N8K4 (UniProtKB/Swiss-Prot),   Q8IVB1 (UniProtKB/Swiss-Prot),   Q5TCQ2 (UniProtKB/Swiss-Prot),   Q5JYD1 (UniProtKB/Swiss-Prot),   Q5JYD0 (UniProtKB/Swiss-Prot),   Q5JYC9 (UniProtKB/Swiss-Prot),   F6WI18 (UniProtKB/Swiss-Prot),   E1P5U4 (UniProtKB/Swiss-Prot),   B4DIR8 (UniProtKB/Swiss-Prot),   Q9NS04 (UniProtKB/Swiss-Prot),   Q8WWT9 (UniProtKB/Swiss-Prot),   B4DF27 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000394217   ⟸   ENST00000450298
RefSeq Acc Id: ENSP00000361193   ⟸   ENST00000372121
RefSeq Acc Id: ENSP00000415852   ⟸   ENST00000413164
RefSeq Acc Id: ENSP00000417784   ⟸   ENST00000468915
RefSeq Acc Id: ENSP00000419621   ⟸   ENST00000495082
RefSeq Acc Id: ENSP00000397955   ⟸   ENST00000417157
RefSeq Acc Id: ENSP00000420177   ⟸   ENST00000472148
RefSeq Acc Id: ENSP00000395095   ⟸   ENST00000420568
RefSeq Acc Id: ENSP00000290317   ⟸   ENST00000290317
RefSeq Acc Id: ENSP00000279027   ⟸   ENST00000279027

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8WWT9-F1-model_v2 AlphaFold Q8WWT9 1-602 view protein structure

Promoters
RGD ID:6799058
Promoter ID:HG_KWN:39697
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:NM_001011554,   UC010GHO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362044,745,856 - 44,746,356 (-)MPROMDB
RGD ID:13207161
Promoter ID:EPDNEW_H27161
Type:multiple initiation site
Name:SLC13A3_4
Description:solute carrier family 13 member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27162  EPDNEW_H27163  EPDNEW_H27164  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,642,566 - 46,642,626EPDNEW
RGD ID:13207163
Promoter ID:EPDNEW_H27162
Type:initiation region
Name:SLC13A3_3
Description:solute carrier family 13 member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27161  EPDNEW_H27163  EPDNEW_H27164  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,651,459 - 46,651,519EPDNEW
RGD ID:13207165
Promoter ID:EPDNEW_H27163
Type:multiple initiation site
Name:SLC13A3_1
Description:solute carrier family 13 member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27161  EPDNEW_H27162  EPDNEW_H27164  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,684,485 - 46,684,545EPDNEW
RGD ID:13207167
Promoter ID:EPDNEW_H27164
Type:initiation region
Name:SLC13A3_2
Description:solute carrier family 13 member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27161  EPDNEW_H27162  EPDNEW_H27163  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,689,147 - 46,689,207EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14430 AgrOrtholog
COSMIC SLC13A3 COSMIC
Ensembl Genes ENSG00000158296 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000279027 ENTREZGENE
  ENST00000279027.9 UniProtKB/Swiss-Prot
  ENST00000290317 ENTREZGENE
  ENST00000290317.9 UniProtKB/Swiss-Prot
  ENST00000372121.5 UniProtKB/TrEMBL
  ENST00000413164 ENTREZGENE
  ENST00000413164.6 UniProtKB/Swiss-Prot
  ENST00000417157.2 UniProtKB/TrEMBL
  ENST00000420568.5 UniProtKB/TrEMBL
  ENST00000450298.5 UniProtKB/TrEMBL
  ENST00000468915.5 UniProtKB/TrEMBL
  ENST00000472148 ENTREZGENE
  ENST00000472148.5 UniProtKB/Swiss-Prot
  ENST00000495082.5 UniProtKB/Swiss-Prot
GTEx ENSG00000158296 GTEx
HGNC ID HGNC:14430 ENTREZGENE
Human Proteome Map SLC13A3 Human Proteome Map
InterPro SLC13A/DASS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:64849 UniProtKB/Swiss-Prot
NCBI Gene 64849 ENTREZGENE
OMIM 606411 OMIM
PANTHER SOLUTE CARRIER FAMILY 13 MEMBER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOLUTE CARRIER FAMILY 13 MEMBER 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Na_sulph_symp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37881 PharmGKB
UniProt A0A0A0MRQ6_HUMAN UniProtKB/TrEMBL
  B4DF27 ENTREZGENE, UniProtKB/TrEMBL
  B4DIR8 ENTREZGENE
  C9J4A3_HUMAN UniProtKB/TrEMBL
  C9J7L4_HUMAN UniProtKB/TrEMBL
  E1P5U4 ENTREZGENE
  F6WI18 ENTREZGENE
  H7C0C8_HUMAN UniProtKB/TrEMBL
  Q5JYC9 ENTREZGENE
  Q5JYD0 ENTREZGENE
  Q5JYD1 ENTREZGENE
  Q5TCQ2 ENTREZGENE
  Q8IVB1 ENTREZGENE
  Q8N8K4 ENTREZGENE
  Q8WWT9 ENTREZGENE
  Q96MM5 ENTREZGENE
  Q9BR25 ENTREZGENE
  Q9H1G1 ENTREZGENE
  Q9H3W4 ENTREZGENE
  Q9NQN5 ENTREZGENE
  Q9NS04 ENTREZGENE
  S13A3_HUMAN UniProtKB/Swiss-Prot
  X6RDV4_HUMAN UniProtKB/TrEMBL
UniProt Secondary B4DIR8 UniProtKB/Swiss-Prot
  E1P5U4 UniProtKB/Swiss-Prot
  F6WI18 UniProtKB/Swiss-Prot
  Q5JYC9 UniProtKB/Swiss-Prot
  Q5JYD0 UniProtKB/Swiss-Prot
  Q5JYD1 UniProtKB/Swiss-Prot
  Q5TCQ2 UniProtKB/Swiss-Prot
  Q8IVB1 UniProtKB/Swiss-Prot
  Q8N8K4 UniProtKB/Swiss-Prot
  Q96MM5 UniProtKB/Swiss-Prot
  Q9BR25 UniProtKB/Swiss-Prot
  Q9H1G1 UniProtKB/Swiss-Prot
  Q9H3W4 UniProtKB/Swiss-Prot
  Q9NQN5 UniProtKB/Swiss-Prot
  Q9NS04 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC13A3  solute carrier family 13 member 3  SLC13A3  solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3  Symbol and/or name change 5135510 APPROVED