RGD:8565423 Rat Genome Database

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Variant: RGD:8565423 -  Homo sapiens

RGD ID: 8565423
RS ID: rs121909746
ClinVar ID: CV31142
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC2A2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 170,723,178
GRCh38 3 171,005,389
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.26591C>T
NC_000003.12:g.171005389G>A
NC_000003.11:g.170723178G>A
NP_000331.1:p.Gln287Ter
More... 		08/05/2013 nonsense|stop-gain pathogenic neonatal/infancy 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:XM_011513087
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 272
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHLNRDKGCPRGRHKAILACQVIISHYRHVLGVPLDDRKAINNYVINSTDELPTISYSMNPKPTPWAEEETVAAAQLITM
LWSLSVSSFAVGGMTASFFGGWLGDTLGRIKAMLVANILSLVGALLMGFSKLGPSHILIIAGRSISGLYCGLISGLVPMY
IGEIAPTALRGALGTFHQLAIVTGILISQIIGLEFILGNYDLWHILLGLSGVRAILQSLLLFFCPESPRYLYIKLDEEVK
AKQSLKRLRGYDDVTKDINEMRKEREEASSE*KVSIIQLFTNSSYRQPILVALMLHVAQQFSGINGIFYYSTSIFQTAGI
SKPVYATIGVGAVNMVFTAVSVFLVEKAGRRSLFLIGMSGMFVCAIFMSVGLVLLNKFSWMSYVSMIAIFLFVSFFEIGP
GPIPWFMVAEFFSQGPRPAALAIAAFSNWTCNFIVALCFQYIADFCGPYVFFLFAGVLLAFTLFTFFKVPETKGKSFEEI
AAEFQKKSGSAHRPKAAVEMKFLGATETV*

Gene Symbol:SLC2A2
Accession:NM_001278658
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 168
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHLNRIKAMLVANILSLVGALLMGFSKLGPSHILIIAGRSISGLYCGLISGLVPMYIGEIAPTALRGALGTFHQLAIVTG
ILISQIIGLEFILGNYDLWHILLGLSGVRAILQSLLLFFCPESPRYLYIKLDEEVKAKQSLKRLRGYDDVTKDINEMRKE
REEASSE*KVSIIQLFTNSSYRQPILVALMLHVAQQFSGINGIFYYSTSIFQTAGISKPVYATIGVGAVNMVFTAVSVFL
VEKAGRRSLFLIGMSGMFVCAIFMSVGLVLLNKFSWMSYVSMIAIFLFVSFFEIGPGPIPWFMVAEFFSQGPRPAALAIA
AFSNWTCNFIVALCFQYIADFCGPYVFFLFAGVLLAFTLFTFFKVPETKGKSFEEIAAEFQKKSGSAHRPKAAVEMKFLG
ATETV*

Gene Symbol:SLC2A2
Accession:NM_000340
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 287
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEDKVTGTLVFTVITAVLGSFQFGYDIGVINAPQQVIISHYRHVLGVPLDDRKAINNYVINSTDELPTISYSMNPKPTP
WAEEETVAAAQLITMLWSLSVSSFAVGGMTASFFGGWLGDTLGRIKAMLVANILSLVGALLMGFSKLGPSHILIIAGRSI
SGLYCGLISGLVPMYIGEIAPTALRGALGTFHQLAIVTGILISQIIGLEFILGNYDLWHILLGLSGVRAILQSLLLFFCP
ESPRYLYIKLDEEVKAKQSLKRLRGYDDVTKDINEMRKEREEASSE*KVSIIQLFTNSSYRQPILVALMLHVAQQFSGIN
GIFYYSTSIFQTAGISKPVYATIGVGAVNMVFTAVSVFLVEKAGRRSLFLIGMSGMFVCAIFMSVGLVLLNKFSWMSYVS
MIAIFLFVSFFEIGPGPIPWFMVAEFFSQGPRPAALAIAAFSNWTCNFIVALCFQYIADFCGPYVFFLFAGVLLAFTLFT
FFKVPETKGKSFEEIAAEFQKKSGSAHRPKAAVEMKFLGATETV*

Gene Symbol:SLC2A2
Accession:NM_001278659
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 114
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYIGEIAPTALRGALGTFHQLAIVTGILISQIIGLEFILGNYDLWHILLGLSGVRAILQSLLLFFCPESPRYLYIKLDEE
VKAKQSLKRLRGYDDVTKDINEMRKEREEASSE*KVSIIQLFTNSSYRQPILVALMLHVAQQFSGINGIFYYSTSIFQTA
GISKPVYATIGVGAVNMVFTAVSVFLVEKAGRRSLFLIGMSGMFVCAIFMSVGLVLLNKFSWMSYVSMIAIFLFVSFFEI
GPGPIPWFMVAEFFSQGPRPAALAIAAFSNWTCNFIVALCFQYIADFCGPYVFFLFAGVLLAFTLFTFFKVPETKGKSFE
EIAAEFQKKSGSAHRPKAAVEMKFLGATETV*

Gene Symbol:SLC2A2
Accession:XM_047448761
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 114
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYIGEIAPTALRGALGTFHQLAIVTGILISQIIGLEFILGNYDLWHILLGLSGVRAILQSLLLFFCPESPRYLYIKLDEE
VKAKQSLKRLRGYDDVTKDINEMRKEREEASSE*KVSIIQLFTNSSYRQPILVALMLHVAQQFSGINGIFYYSTSIFQTA
GISKPVYATIGVGAVNMVFTAVSVFLVEKAGRRSLFLIGMSGMFVCAIFMSVGLVLLNKFSWMSYVSMIAIFLFVSFFEI
GPGPIPWFMVAEFFSQGPRPAALAIAAFSNWTCNFIVALCFQYIADFCGPYVFFLFAGVLLAFTLFTFFKVPETKGKSFE
EIAAEFQKKSGSAHRPKAAVEMKFLGATETV*
Variant Samples
Additional References at PubMed
PMID:11044475  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000017483 CLINVAR
dbSNP (RS) rs121909746 CLINVAR
MedGen C3495427 CLINVAR
NCBI Gene SLC2A2 CLINVAR
OMIM 138160 CLINVAR
  227810 CLINVAR
OMIM Allele 138160.0014 CLINVAR
SNOMED CT 61598006 CLINVAR