RGD:11634207 Rat Genome Database

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Variant: RGD:11634207 -  Homo sapiens

RGD ID: 11634207
RS ID: rs387906682
ClinVar ID: CV38836
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127883761  SLC5A2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 31,500,355
GRCh38 16 31,489,034
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NM_003041.4:c.1435C>G
NG_012892.1:g.10917C>G
NC_000016.10:g.31489034C>G
NC_000016.9:g.31500355C>G
More... 		03/01/2011 intron variant|missense variant pathogenic all ages Familial renal glycosuria; RENAL GLUCOSURIA, AUTOSOMAL DOMINANT
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC5A2
Accession:NM_003041
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 479
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEHTEAGSAPEMGAQKALIDNPADILVIAAYFLLVIGVGLWSMCRTNRGTVGGYFLAGRSMVWWPVGASLFASNIGSGH
FVGLAGTGAASGLAVAGFEWNALFVVLLLGWLFAPVYLTAGVITMPQYLRKRFGGRRIRLYLSVLSLFLYIFTKISVDMF
SGAVFIQQALGWNIYASVIALLGITMIYTVTGGLAALMYTDTVQTFVILGGACILMGYAFHEVGGYSGLFDKYLGAATSL
TVSEDPAVGNISSFCYRPRPDSYHLLRHPVTGDLPWPALLLGLTIVSGWYWCSDQVIVQRCLAGKSLTHIKAGCILCGYL
KLTPMFLMVMPGMISRILYPDEVACVVPEVCRRVCGTEVGCSNIAYPRLVVKLMPNGLRGLMLAVMLAALMSSLASIFNS
SSTLFTMDIYTRLRPRAGDRELLLVGRLWVVFIVVVSVAWLPVVQAAQGGQLFDYIQAVSSYLAPPVSAVFVLALFVPGV
NEQGAFWGLIGGLLMGLARLIPEFSFGSGSCVQPSACPAFLCGVHYLYFAIVLFFCSGLLTLTVSLCTAPIPRKHLHRLV
FSLRHSKEEREDLDADEQQGSSLPVQNGCPESAMEMNEPQAPAPSLFRQCLLWFCGMSRGGVGSPPPLTQEEAAAAARRL
EDISEDPSWARVVNLNALLMMAVAVFLWGFYA*

Gene Symbol:SLC5A2
Accession:XM_006721072
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 479
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEHTEAGSAPEMGAQKALIDNPADILVIAAYFLLVIGVGLWSMCRTNRGTVGGYFLAGRSMVWWPVGASLFASNIGSGH
FVGLAGTGAASGLAVAGFEWNALFVVLLLGWLFAPVYLTAGVITMPQYLRKRFGGRRIRLYLSVLSLFLYIFTKISVDMF
SGAVFIQQALGWNIYASVIALLGITMIYTVTGGLAALMYTDTVQTFVILGGACILMGYAFHEVGGYSGLFDKYLGAATSL
TVSEDPAVGNISSFCYRPRPDSYHLLRHPVTGDLPWPALLLGLTIVSGWYWCSDQVIVQRCLAGKSLTHIKAGCILCGYL
KLTPMFLMVMPGMISRILYPDEVACVVPEVCRRVCGTEVGCSNIAYPRLVVKLMPNGLRGLMLAVMLAALMSSLASIFNS
SSTLFTMDIYTRLRPRAGDRELLLVGRLWVVFIVVVSVAWLPVVQAAQGGQLFDYIQAVSSYLAPPVSAVFVLALFVPGV
NEQGAFWGLIGGLLMGLARLIPEFSFGSGSCVQPSACPAFLCGVHYLYFAIVLFFCSGLLTLTVSLCTAPIPRKHLHRLV
FSLRHSKEEREDLDADEQQGSSLPVQNGCPESAMEMNGRAPCWEVGLEELSSRKLTAGPQFPSEPQAPAPSLFRQCLLWF
CGMSRGGVGSPPPLTQEEAAAAARRLEDISEDPSWARVVNLNALLMMAVAVFLWGFYA*

Gene Symbol:SLC5A2
Accession:XM_024450402
Location:INTRON

Gene Symbol:SLC5A2
Accession:NR_130783
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:21165652  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000408654 CLINVAR
dbSNP (RS) rs387906682 CLINVAR
MedGen C3245525 CLINVAR
NCBI Gene SLC5A2 CLINVAR
OMIM 182381 CLINVAR
  233100 CLINVAR
OMIM Allele 182381.0005 CLINVAR
SNOMED CT 226309007 CLINVAR