rs141627694 Rat Genome Database

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Variant: rs141627694 -  Homo sapiens

RGD ID: 11625451
RS ID: rs141627694
ClinVar ID: CV341332
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC5A2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 31,499,958
GRCh38 16 31,488,637
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.10520T>C
NC_000016.10:g.31488637T>C
NC_000016.9:g.31499958T>C
NP_003032.1:p.Met382Thr
More...
04/28/2017 intron variant|missense variant uncertain significance all ages Familial renal glycosuria; RENAL GLUCOSURIA, AUTOSOMAL DOMINANT
Disease Annotations     Click to see Annotation Detail View

GWAS Catalog Data
GWAS Catalog Study Disease Trait Study Size Risk Allele Risk Allele Frequency P Value P Value MLOG SNP Passing QC Reported Odds Ratio or Beta-coefficient Ontology Accession PubMed
GCST008614 Glucosuria 10,857 Icelandic ancestry cases, 135,512 Icelandic ancestry controls (includes non-array genotyped, whole-genome imputed individuals) C 0.00101 5E-15 14.301029995663981 Illumina [32500000] (imputed) 4.165 Glycosuria (HP:0003076)
PMID:30476138
GCST008605 Glucosuria (moderate to severe) 6,109 Icelandic ancestry cases, 135,512 Icelandic ancestry controls (includes non-array genotyped, whole-genome imputed individuals) C 0.00101 1E-9 9.0 Illumina [32500000] (imputed) 4.157 Glycosuria (HP:0003076)
PMID:30476138
GCST008606 Glucosuria (mild) 4,748 Icelandic ancestry cases, 135,512 Icelandic ancestry controls (includes non-array genotyped, whole-genome imputed individuals) C 0.0010 6E-9 8.221848749616356 Illumina [32500000] (imputed) 4.13 Glycosuria (HP:0003076)
PMID:30476138

Variant Details
Variant Transcripts
Gene Symbol:SLC5A2
Accession:NM_003041
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 382
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEHTEAGSAPEMGAQKALIDNPADILVIAAYFLLVIGVGLWSMCRTNRGTVGGYFLAGRSMVWWPVGASLFASNIGSGH
FVGLAGTGAASGLAVAGFEWNALFVVLLLGWLFAPVYLTAGVITMPQYLRKRFGGRRIRLYLSVLSLFLYIFTKISVDMF
SGAVFIQQALGWNIYASVIALLGITMIYTVTGGLAALMYTDTVQTFVILGGACILMGYAFHEVGGYSGLFDKYLGAATSL
TVSEDPAVGNISSFCYRPRPDSYHLLRHPVTGDLPWPALLLGLTIVSGWYWCSDQVIVQRCLAGKSLTHIKAGCILCGYL
KLTPMFLMVMPGMISRILYPDEVACVVPEVCRRVCGTEVGCSNIAYPRLVVKLMPNGLRGLTLAVMLAALMSSLASIFNS
SSTLFTMDIYTRLRPRAGDRELLLVGRLWVVFIVVVSVAWLPVVQAAQGGQLFDYIQAVSSYLAPPVSAVFVLALFVPRV
NEQGAFWGLIGGLLMGLARLIPEFSFGSGSCVQPSACPAFLCGVHYLYFAIVLFFCSGLLTLTVSLCTAPIPRKHLHRLV
FSLRHSKEEREDLDADEQQGSSLPVQNGCPESAMEMNEPQAPAPSLFRQCLLWFCGMSRGGVGSPPPLTQEEAAAAARRL
EDISEDPSWARVVNLNALLMMAVAVFLWGFYA*

Gene Symbol:SLC5A2
Accession:XM_006721072
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 382
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEHTEAGSAPEMGAQKALIDNPADILVIAAYFLLVIGVGLWSMCRTNRGTVGGYFLAGRSMVWWPVGASLFASNIGSGH
FVGLAGTGAASGLAVAGFEWNALFVVLLLGWLFAPVYLTAGVITMPQYLRKRFGGRRIRLYLSVLSLFLYIFTKISVDMF
SGAVFIQQALGWNIYASVIALLGITMIYTVTGGLAALMYTDTVQTFVILGGACILMGYAFHEVGGYSGLFDKYLGAATSL
TVSEDPAVGNISSFCYRPRPDSYHLLRHPVTGDLPWPALLLGLTIVSGWYWCSDQVIVQRCLAGKSLTHIKAGCILCGYL
KLTPMFLMVMPGMISRILYPDEVACVVPEVCRRVCGTEVGCSNIAYPRLVVKLMPNGLRGLTLAVMLAALMSSLASIFNS
SSTLFTMDIYTRLRPRAGDRELLLVGRLWVVFIVVVSVAWLPVVQAAQGGQLFDYIQAVSSYLAPPVSAVFVLALFVPRV
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:18622023  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000399105 CLINVAR
dbSNP (RS) rs141627694 CLINVAR
GWAS Catalog GCST008605 GWAS Catalog
  GCST008606 GWAS Catalog
  GCST008614 GWAS Catalog
MedGen C3245525 CLINVAR
NCBI Gene SLC5A2 CLINVAR
OMIM 182381 CLINVAR
  233100 CLINVAR
SNOMED CT 226309007 CLINVAR