rs17683430 Rat Genome Database

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Variant: rs17683430 -  Homo sapiens

RGD ID: 11631166
RS ID: rs17683430
ClinVar ID: CV351382
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC5A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 32,487,700
GRCh38 22 32,091,713
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_017045.1:g.53682G>A
NC_000022.11:g.32091713G>A
NC_000022.10:g.32487700G>A
NP_000334.1:p.Ala411Thr
More... 		12/04/2020 missense variant benign|likely benign infancy AllHighlyPenetrant; Carbohydrate intolerance of glucose galactose; Complex carbohydrate intolerance; Glucose galactose malabsorption deficiency; Monosaccharide malabsorption
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
GCST005166 GIP levels in response to oral glucose tolerance test (120 minutes) 3,344 Swedish ancestry individuals A 0.074 3E-18 17.522878745280337 Illumina [at least 81396] 0.122 glucose-dependent insulinotropic peptide measurement (EFO:0008464)
glucose tolerance test (EFO:0004307)
 PMID:29093273

Variant Details
Variant Transcripts
Gene Symbol:SLC5A1
Accession:XM_011530331
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 411
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSSTWSPKTTAVTRPVETHELIRNAADISIIVIYFVVVMAVGLWAMFSTNRGTVGGFFLAGRSMVWWPIGASLFASNIG
SGHFVGLAGTGAASGIAIGGFEWNALVLVVVLGWLFVPIYIKAGVVTMPEYLRKRFGGQRIQVYLSLLSLLLYIFTKISA
DIFSGAIFINLALGLNLYLAIFLLLAITALYTITGGLAAVIYTDTLQTVIMLVGSLILTGFAFHEVGGYDAFMEKYMKAI
PTIVSDGNTTFQEKCYTPRADSFHIFRDPLTGDLPWPGFIFGMSILTLWYWCTDQVIVQRCLSAKNMSHVKGGCILCGYL
KLMPMFIMVMPGMISRILYTEKIACVVPSECEKYCGTKVGCTNIAYPTLVVELMPNGLRGLMLSVMLASLMSSLTSIFNS
ASTLFTMDIYTKVRKRASEKELMIAGREPFGD*

Gene Symbol:SLC5A1
Accession:NM_000343
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 411
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSSTWSPKTTAVTRPVETHELIRNAADISIIVIYFVVVMAVGLWAMFSTNRGTVGGFFLAGRSMVWWPIGASLFASNIG
SGHFVGLAGTGAASGIAIGGFEWNALVLVVVLGWLFVPIYIKAGVVTMPEYLRKRFGGQRIQVYLSLLSLLLYIFTKISA
DIFSGAIFINLALGLNLYLAIFLLLAITALYTITGGLAAVIYTDTLQTVIMLVGSLILTGFAFHEVGGYDAFMEKYMKAI
PTIVSDGNTTFQEKCYTPRADSFHIFRDPLTGDLPWPGFIFGMSILTLWYWCTDQVIVQRCLSAKNMSHVKGGCILCGYL
KLMPMFIMVMPGMISRILYTEKIACVVPSECEKYCGTKVGCTNIAYPTLVVELMPNGLRGLMLSVMLASLMSSLTSIFNS
ASTLFTMDIYTKVRKRASEKELMIAGRLFILVLIGISIAWVPIVQSAQSGQLFDYIQSITSYLGPPIAAVFLLAIFWKRV
NEPGAFWGLILGLLIGISRMITEFAYGTGSCMEPSNCPTIICGVHYLYFAIILFAISFITIVVISLLTKPIPDVHLYRLC
WSLRNSKEERIDLDAEEENIQEGPKETIEIETQVPEKKKGIFRRAYDLFCGLEQHGAPKMTEEEEKAMKMKMTDTSEKPL
WRTVLNVNGIILVTVAVFCHAYFA*

Gene Symbol:SLC5A1
Accession:NM_001256314
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 284
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPEYLRKRFGGQRIQVYLSLLSLLLYIFTKISADIFSGAIFINLALGLNLYLAIFLLLAITALYTITGGLAAVIYTDTLQ
TVIMLVGSLILTGFAFHEVGGYDAFMEKYMKAIPTIVSDGNTTFQEKCYTPRADSFHIFRDPLTGDLPWPGFIFGMSILT
LWYWCTDQVIVQRCLSAKNMSHVKGGCILCGYLKLMPMFIMVMPGMISRILYTEKIACVVPSECEKYCGTKVGCTNIAYP
TLVVELMPNGLRGLMLSVMLASLMSSLTSIFNSASTLFTMDIYTKVRKRASEKELMIAGRLFILVLIGISIAWVPIVQSA
QSGQLFDYIQSITSYLGPPIAAVFLLAIFWKRVNEPGAFWGLILGLLIGISRMITEFAYGTGSCMEPSNCPTIICGVHYL
YFAIILFAISFITIVVISLLTKPIPDVHLYRLCWSLRNSKEERIDLDAEEENIQEGPKETIEIETQVPEKKKGIFRRAYD
LFCGLEQHGAPKMTEEEEKAMKMKMTDTSEKPLWRTVLNVNGIILVTVAVFCHAYFA*
Variant Samples
Additional References at PubMed
PMID:24033266   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000370025 CLINVAR
  RCV000455310 CLINVAR
dbSNP (RS) rs17683430 CLINVAR
GWAS Catalog GCST005166 GWAS Catalog
MedGen C0268186 CLINVAR
  CN169374 CLINVAR
NCBI Gene SLC5A1 CLINVAR
OMIM 182380 CLINVAR
  606824 CLINVAR
SNOMED CT 27943000 CLINVAR