RGD:11621661 Rat Genome Database

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Variant: RGD:11621661 -  Homo sapiens

RGD ID: 11621661
RS ID: rs535031004
ClinVar ID: CV341335
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RUSF1  SLC5A2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 31,501,714
GRCh38 16 31,490,393
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_012892.1:g.12276C>T
NC_000016.10:g.31490393C>T
NC_000016.9:g.31501714C>T
NP_003032.1:p.Pro626Leu
More... 		06/14/2016 3 prime utr variant|missense variant uncertain significance all ages Familial renal glycosuria; RENAL GLUCOSURIA, AUTOSOMAL DOMINANT
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RUSF1
Accession:NM_022744
Location:3UTRS;EXON

Gene Symbol:SLC5A2
Accession:XM_024450402
Location:3UTRS;EXON

Gene Symbol:SLC5A2
Accession:NM_003041
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 626
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEHTEAGSAPEMGAQKALIDNPADILVIAAYFLLVIGVGLWSMCRTNRGTVGGYFLAGRSMVWWPVGASLFASNIGSGH
FVGLAGTGAASGLAVAGFEWNALFVVLLLGWLFAPVYLTAGVITMPQYLRKRFGGRRIRLYLSVLSLFLYIFTKISVDMF
SGAVFIQQALGWNIYASVIALLGITMIYTVTGGLAALMYTDTVQTFVILGGACILMGYAFHEVGGYSGLFDKYLGAATSL
TVSEDPAVGNISSFCYRPRPDSYHLLRHPVTGDLPWPALLLGLTIVSGWYWCSDQVIVQRCLAGKSLTHIKAGCILCGYL
KLTPMFLMVMPGMISRILYPDEVACVVPEVCRRVCGTEVGCSNIAYPRLVVKLMPNGLRGLMLAVMLAALMSSLASIFNS
SSTLFTMDIYTRLRPRAGDRELLLVGRLWVVFIVVVSVAWLPVVQAAQGGQLFDYIQAVSSYLAPPVSAVFVLALFVPRV
NEQGAFWGLIGGLLMGLARLIPEFSFGSGSCVQPSACPAFLCGVHYLYFAIVLFFCSGLLTLTVSLCTAPIPRKHLHRLV
FSLRHSKEEREDLDADEQQGSSLPVQNGCPESAMEMNEPQAPAPSLFRQCLLWFCGMSRGGVGSPLPLTQEEAAAAARRL
EDISEDPSWARVVNLNALLMMAVAVFLWGFYA*

Gene Symbol:SLC5A2
Accession:XM_006721072
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 652
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEHTEAGSAPEMGAQKALIDNPADILVIAAYFLLVIGVGLWSMCRTNRGTVGGYFLAGRSMVWWPVGASLFASNIGSGH
FVGLAGTGAASGLAVAGFEWNALFVVLLLGWLFAPVYLTAGVITMPQYLRKRFGGRRIRLYLSVLSLFLYIFTKISVDMF
SGAVFIQQALGWNIYASVIALLGITMIYTVTGGLAALMYTDTVQTFVILGGACILMGYAFHEVGGYSGLFDKYLGAATSL
TVSEDPAVGNISSFCYRPRPDSYHLLRHPVTGDLPWPALLLGLTIVSGWYWCSDQVIVQRCLAGKSLTHIKAGCILCGYL
KLTPMFLMVMPGMISRILYPDEVACVVPEVCRRVCGTEVGCSNIAYPRLVVKLMPNGLRGLMLAVMLAALMSSLASIFNS
SSTLFTMDIYTRLRPRAGDRELLLVGRLWVVFIVVVSVAWLPVVQAAQGGQLFDYIQAVSSYLAPPVSAVFVLALFVPRV
NEQGAFWGLIGGLLMGLARLIPEFSFGSGSCVQPSACPAFLCGVHYLYFAIVLFFCSGLLTLTVSLCTAPIPRKHLHRLV
FSLRHSKEEREDLDADEQQGSSLPVQNGCPESAMEMNGRAPCWEVGLEELSSRKLTAGPQFPSEPQAPAPSLFRQCLLWF
CGMSRGGVGSPLPLTQEEAAAAARRLEDISEDPSWARVVNLNALLMMAVAVFLWGFYA*

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

Gene Symbol:RUSF1
Accession:XM_047434496
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000350843 CLINVAR
dbSNP (RS) rs535031004 CLINVAR
MedGen C3245525 CLINVAR
NCBI Gene C16orf58 CLINVAR
  SLC5A2 CLINVAR
OMIM 182381 CLINVAR
  233100 CLINVAR
SNOMED CT 226309007 CLINVAR