RGD:8660721 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

Variant: RGD:8660721 -  Homo sapiens

RGD ID: 8660721
RS ID: rs5398
ClinVar ID: CV135795
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC2A2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 170,715,830
GRCh38 3 170,998,041
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_008108.1:g.33939C>T
NC_000003.12:g.170998041G>A
NC_000003.11:g.170715830G>A
NP_000331.1:p.Phe479=
More... 		06/14/2016 synonymous variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance infancy AllHighlyPenetrant; Diabetes mellitus, noninsulin-dependent, late onset; DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Fanconi syndrome with intestinal malabsorption and galactose intolerance; Glycogen storage disease due to GLUT2 deficiency; Glycogenosis Fanconi type; Hepatic glycogenosis with amino aciduria and glucosuria; HEPATIC GLYCOGENOSIS WITH FANCONI NEPHROPATHY; Hepatorenal glycogenosis with renal Fanconi syndrome; none provided; Pseudo-Phlorizin diabetes; Type II diabetes mellitus
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:SLC2A2
Accession:XM_011513087
Location:EXON
Amino Acid Prediction: F to F (synonymous)
Amino Acid Position: 464
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHLNRDKGCPRGRHKAILACQVIISHYRHVLGVPLDDRKAINNYVINSTDELPTISYSMNPKPTPWAEEETVAAAQLITM
LWSLSVSSFAVGGMTASFFGGWLGDTLGRIKAMLVANILSLVGALLMGFSKLGPSHILIIAGRSISGLYCGLISGLVPMY
IGEIAPTALRGALGTFHQLAIVTGILISQIIGLEFILGNYDLWHILLGLSGVRAILQSLLLFFCPESPRYLYIKLDEEVK
AKQSLKRLRGYDDVTKDINEMRKEREEASSEQKVSIIQLFTNSSYRQPILVALMLHVAQQFSGINGIFYYSTSIFQTAGI
SKPVYATIGVGAVNMVFTAVSVFLVEKAGRRSLFLIGMSGMFVCAIFMSVGLVLLNKFSWMSYVSMIAIFLFVSFFEIGP
GPIPWFMVAEFFSQGPRPAALAIAAFSNWTCNFIVALCFQYIADFCGPYVFFLFAGVLLAFTLFTFFKVPETKGKSFEEI
AAEFQKKSGSAHRPKAAVEMKFLGATETV*

Gene Symbol:SLC2A2
Accession:NM_001278658
Location:EXON
Amino Acid Prediction: F to F (synonymous)
Amino Acid Position: 360
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHLNRIKAMLVANILSLVGALLMGFSKLGPSHILIIAGRSISGLYCGLISGLVPMYIGEIAPTALRGALGTFHQLAIVTG
ILISQIIGLEFILGNYDLWHILLGLSGVRAILQSLLLFFCPESPRYLYIKLDEEVKAKQSLKRLRGYDDVTKDINEMRKE
REEASSEQKVSIIQLFTNSSYRQPILVALMLHVAQQFSGINGIFYYSTSIFQTAGISKPVYATIGVGAVNMVFTAVSVFL
VEKAGRRSLFLIGMSGMFVCAIFMSVGLVLLNKFSWMSYVSMIAIFLFVSFFEIGPGPIPWFMVAEFFSQGPRPAALAIA
AFSNWTCNFIVALCFQYIADFCGPYVFFLFAGVLLAFTLFTFFKVPETKGKSFEEIAAEFQKKSGSAHRPKAAVEMKFLG
ATETV*

Gene Symbol:SLC2A2
Accession:XM_047448761
Location:EXON
Amino Acid Prediction: F to F (synonymous)
Amino Acid Position: 306
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYIGEIAPTALRGALGTFHQLAIVTGILISQIIGLEFILGNYDLWHILLGLSGVRAILQSLLLFFCPESPRYLYIKLDEE
VKAKQSLKRLRGYDDVTKDINEMRKEREEASSEQKVSIIQLFTNSSYRQPILVALMLHVAQQFSGINGIFYYSTSIFQTA
GISKPVYATIGVGAVNMVFTAVSVFLVEKAGRRSLFLIGMSGMFVCAIFMSVGLVLLNKFSWMSYVSMIAIFLFVSFFEI
GPGPIPWFMVAEFFSQGPRPAALAIAAFSNWTCNFIVALCFQYIADFCGPYVFFLFAGVLLAFTLFTFFKVPETKGKSFE
EIAAEFQKKSGSAHRPKAAVEMKFLGATETV*

Gene Symbol:SLC2A2
Accession:NM_000340
Location:EXON
Amino Acid Prediction: F to F (synonymous)
Amino Acid Position: 479
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEDKVTGTLVFTVITAVLGSFQFGYDIGVINAPQQVIISHYRHVLGVPLDDRKAINNYVINSTDELPTISYSMNPKPTP
WAEEETVAAAQLITMLWSLSVSSFAVGGMTASFFGGWLGDTLGRIKAMLVANILSLVGALLMGFSKLGPSHILIIAGRSI
SGLYCGLISGLVPMYIGEIAPTALRGALGTFHQLAIVTGILISQIIGLEFILGNYDLWHILLGLSGVRAILQSLLLFFCP
ESPRYLYIKLDEEVKAKQSLKRLRGYDDVTKDINEMRKEREEASSEQKVSIIQLFTNSSYRQPILVALMLHVAQQFSGIN
GIFYYSTSIFQTAGISKPVYATIGVGAVNMVFTAVSVFLVEKAGRRSLFLIGMSGMFVCAIFMSVGLVLLNKFSWMSYVS
MIAIFLFVSFFEIGPGPIPWFMVAEFFSQGPRPAALAIAAFSNWTCNFIVALCFQYIADFCGPYVFFLFAGVLLAFTLFT
FFKVPETKGKSFEEIAAEFQKKSGSAHRPKAAVEMKFLGATETV*

Gene Symbol:SLC2A2
Accession:NM_001278659
Location:EXON
Amino Acid Prediction: F to F (synonymous)
Amino Acid Position: 306
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYIGEIAPTALRGALGTFHQLAIVTGILISQIIGLEFILGNYDLWHILLGLSGVRAILQSLLLFFCPESPRYLYIKLDEE
VKAKQSLKRLRGYDDVTKDINEMRKEREEASSEQKVSIIQLFTNSSYRQPILVALMLHVAQQFSGINGIFYYSTSIFQTA
GISKPVYATIGVGAVNMVFTAVSVFLVEKAGRRSLFLIGMSGMFVCAIFMSVGLVLLNKFSWMSYVSMIAIFLFVSFFEI
GPGPIPWFMVAEFFSQGPRPAALAIAAFSNWTCNFIVALCFQYIADFCGPYVFFLFAGVLLAFTLFTFFKVPETKGKSFE
EIAAEFQKKSGSAHRPKAAVEMKFLGATETV*
Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:27035118   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000118386 CLINVAR
  RCV000330469 CLINVAR
  RCV000675652 CLINVAR
  RCV002226675 CLINVAR
dbSNP (RS) rs5398 CLINVAR
MedGen C0011860 CLINVAR
  C3495427 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene SLC2A2 CLINVAR
OMIM 125853 CLINVAR
  138160 CLINVAR
  227810 CLINVAR
SNOMED CT 44054006 CLINVAR
  61598006 CLINVAR