RGD:28875918 Rat Genome Database

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Variant: RGD:28875918 -  Homo sapiens

RGD ID: 28875918
RS ID: rs2082556858
ClinVar ID: CV875188
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RUSF1  SLC5A2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 31,501,850
GRCh38 16 31,490,529
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_022744.4:c.*306A>G
NM_003041.4:c.2013T>C
NG_012892.1:g.12412T>C
NG_033149.1:g.22891A>G
More... 		01/13/2018 3 prime utr variant uncertain significance 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: Y to Y (synonymous)
Amino Acid Position: 671
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEHTEAGSAPEMGAQKALIDNPADILVIAAYFLLVIGVGLWSMCRTNRGTVGGYFLAGRSMVWWPVGASLFASNIGSGH
FVGLAGTGAASGLAVAGFEWNALFVVLLLGWLFAPVYLTAGVITMPQYLRKRFGGRRIRLYLSVLSLFLYIFTKISVDMF
SGAVFIQQALGWNIYASVIALLGITMIYTVTGGLAALMYTDTVQTFVILGGACILMGYAFHEVGGYSGLFDKYLGAATSL
TVSEDPAVGNISSFCYRPRPDSYHLLRHPVTGDLPWPALLLGLTIVSGWYWCSDQVIVQRCLAGKSLTHIKAGCILCGYL
KLTPMFLMVMPGMISRILYPDEVACVVPEVCRRVCGTEVGCSNIAYPRLVVKLMPNGLRGLMLAVMLAALMSSLASIFNS
SSTLFTMDIYTRLRPRAGDRELLLVGRLWVVFIVVVSVAWLPVVQAAQGGQLFDYIQAVSSYLAPPVSAVFVLALFVPRV
NEQGAFWGLIGGLLMGLARLIPEFSFGSGSCVQPSACPAFLCGVHYLYFAIVLFFCSGLLTLTVSLCTAPIPRKHLHRLV
FSLRHSKEEREDLDADEQQGSSLPVQNGCPESAMEMNEPQAPAPSLFRQCLLWFCGMSRGGVGSPPPLTQEEAAAAARRL
EDISEDPSWARVVNLNALLMMAVAVFLWGFYA*

Gene Symbol:SLC5A2
Accession:XM_006721072
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 697
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEHTEAGSAPEMGAQKALIDNPADILVIAAYFLLVIGVGLWSMCRTNRGTVGGYFLAGRSMVWWPVGASLFASNIGSGH
FVGLAGTGAASGLAVAGFEWNALFVVLLLGWLFAPVYLTAGVITMPQYLRKRFGGRRIRLYLSVLSLFLYIFTKISVDMF
SGAVFIQQALGWNIYASVIALLGITMIYTVTGGLAALMYTDTVQTFVILGGACILMGYAFHEVGGYSGLFDKYLGAATSL
TVSEDPAVGNISSFCYRPRPDSYHLLRHPVTGDLPWPALLLGLTIVSGWYWCSDQVIVQRCLAGKSLTHIKAGCILCGYL
KLTPMFLMVMPGMISRILYPDEVACVVPEVCRRVCGTEVGCSNIAYPRLVVKLMPNGLRGLMLAVMLAALMSSLASIFNS
SSTLFTMDIYTRLRPRAGDRELLLVGRLWVVFIVVVSVAWLPVVQAAQGGQLFDYIQAVSSYLAPPVSAVFVLALFVPRV
NEQGAFWGLIGGLLMGLARLIPEFSFGSGSCVQPSACPAFLCGVHYLYFAIVLFFCSGLLTLTVSLCTAPIPRKHLHRLV
FSLRHSKEEREDLDADEQQGSSLPVQNGCPESAMEMNGRAPCWEVGLEELSSRKLTAGPQFPSEPQAPAPSLFRQCLLWF
CGMSRGGVGSPPPLTQEEAAAAARRLEDISEDPSWARVVNLNALLMMAVAVFLWGFYA*

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 RCV001116119 CLINVAR
dbSNP (RS) rs2082556858 CLINVAR
MedGen C3245525 CLINVAR
NCBI Gene RUSF1 CLINVAR
  SLC5A2 CLINVAR
OMIM 182381 CLINVAR
  233100 CLINVAR
SNOMED CT 226309007 CLINVAR