RGD:12843996 Rat Genome Database

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Variant: RGD:12843996 -  Homo sapiens

RGD ID: 12843996
RS ID: rs371657103
ClinVar ID: CV367256
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC2A2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 170,716,105
GRCh38 3 170,998,316
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000340.1:c.1251G>A
NM_000340.2:c.1251G>A
NM_001278659.2:c.732G>A
NM_001278658.2:c.894G>A
More... 		08/03/2016 synonymous variant likely benign AllHighlyPenetrant; 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; Pseudo-Phlorizin diabetes
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC2A2
Accession:NM_001278659
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 244
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYIGEIAPTALRGALGTFHQLAIVTGILISQIIGLEFILGNYDLWHILLGLSGVRAILQSLLLFFCPESPRYLYIKLDEE
VKAKQSLKRLRGYDDVTKDINEMRKEREEASSEQKVSIIQLFTNSSYRQPILVALMLHVAQQFSGINGIFYYSTSIFQTA
GISKPVYATIGVGAVNMVFTAVSVFLVEKAGRRSLFLIGMSGMFVCAIFMSVGLVLLNKFSWMSYVSMIAIFLFVSFFEI
GPGPIPWFMVAEFFSQGPRPAALAIAAFSNWTCNFIVALCFQYIADFCGPYVFFLFAGVLLAFTLFTFFKVPETKGKSFE
EIAAEFQKKSGSAHRPKAAVEMKFLGATETV*

Gene Symbol:SLC2A2
Accession:XM_011513087
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 402
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHLNRDKGCPRGRHKAILACQVIISHYRHVLGVPLDDRKAINNYVINSTDELPTISYSMNPKPTPWAEEETVAAAQLITM
LWSLSVSSFAVGGMTASFFGGWLGDTLGRIKAMLVANILSLVGALLMGFSKLGPSHILIIAGRSISGLYCGLISGLVPMY
IGEIAPTALRGALGTFHQLAIVTGILISQIIGLEFILGNYDLWHILLGLSGVRAILQSLLLFFCPESPRYLYIKLDEEVK
AKQSLKRLRGYDDVTKDINEMRKEREEASSEQKVSIIQLFTNSSYRQPILVALMLHVAQQFSGINGIFYYSTSIFQTAGI
SKPVYATIGVGAVNMVFTAVSVFLVEKAGRRSLFLIGMSGMFVCAIFMSVGLVLLNKFSWMSYVSMIAIFLFVSFFEIGP
GPIPWFMVAEFFSQGPRPAALAIAAFSNWTCNFIVALCFQYIADFCGPYVFFLFAGVLLAFTLFTFFKVPETKGKSFEEI
AAEFQKKSGSAHRPKAAVEMKFLGATETV*

Gene Symbol:SLC2A2
Accession:XM_047448761
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 244
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYIGEIAPTALRGALGTFHQLAIVTGILISQIIGLEFILGNYDLWHILLGLSGVRAILQSLLLFFCPESPRYLYIKLDEE
VKAKQSLKRLRGYDDVTKDINEMRKEREEASSEQKVSIIQLFTNSSYRQPILVALMLHVAQQFSGINGIFYYSTSIFQTA
GISKPVYATIGVGAVNMVFTAVSVFLVEKAGRRSLFLIGMSGMFVCAIFMSVGLVLLNKFSWMSYVSMIAIFLFVSFFEI
GPGPIPWFMVAEFFSQGPRPAALAIAAFSNWTCNFIVALCFQYIADFCGPYVFFLFAGVLLAFTLFTFFKVPETKGKSFE
EIAAEFQKKSGSAHRPKAAVEMKFLGATETV*

Gene Symbol:SLC2A2
Accession:NM_001278658
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 298
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHLNRIKAMLVANILSLVGALLMGFSKLGPSHILIIAGRSISGLYCGLISGLVPMYIGEIAPTALRGALGTFHQLAIVTG
ILISQIIGLEFILGNYDLWHILLGLSGVRAILQSLLLFFCPESPRYLYIKLDEEVKAKQSLKRLRGYDDVTKDINEMRKE
REEASSEQKVSIIQLFTNSSYRQPILVALMLHVAQQFSGINGIFYYSTSIFQTAGISKPVYATIGVGAVNMVFTAVSVFL
VEKAGRRSLFLIGMSGMFVCAIFMSVGLVLLNKFSWMSYVSMIAIFLFVSFFEIGPGPIPWFMVAEFFSQGPRPAALAIA
AFSNWTCNFIVALCFQYIADFCGPYVFFLFAGVLLAFTLFTFFKVPETKGKSFEEIAAEFQKKSGSAHRPKAAVEMKFLG
ATETV*

Gene Symbol:SLC2A2
Accession:NM_000340
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 417
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEDKVTGTLVFTVITAVLGSFQFGYDIGVINAPQQVIISHYRHVLGVPLDDRKAINNYVINSTDELPTISYSMNPKPTP
WAEEETVAAAQLITMLWSLSVSSFAVGGMTASFFGGWLGDTLGRIKAMLVANILSLVGALLMGFSKLGPSHILIIAGRSI
SGLYCGLISGLVPMYIGEIAPTALRGALGTFHQLAIVTGILISQIIGLEFILGNYDLWHILLGLSGVRAILQSLLLFFCP
ESPRYLYIKLDEEVKAKQSLKRLRGYDDVTKDINEMRKEREEASSEQKVSIIQLFTNSSYRQPILVALMLHVAQQFSGIN
GIFYYSTSIFQTAGISKPVYATIGVGAVNMVFTAVSVFLVEKAGRRSLFLIGMSGMFVCAIFMSVGLVLLNKFSWMSYVS
MIAIFLFVSFFEIGPGPIPWFMVAEFFSQGPRPAALAIAAFSNWTCNFIVALCFQYIADFCGPYVFFLFAGVLLAFTLFT
FFKVPETKGKSFEEIAAEFQKKSGSAHRPKAAVEMKFLGATETV*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000437213 CLINVAR
  RCV002063391 CLINVAR
  RCV003942422 CLINVAR
dbSNP (RS) rs371657103 CLINVAR
MedGen C3495427 CLINVAR
  CN169374 CLINVAR
NCBI Gene SLC2A2 CLINVAR
OMIM 138160 CLINVAR
  227810 CLINVAR
SNOMED CT 61598006 CLINVAR