RGD:11632229 Rat Genome Database

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Variant: RGD:11632229 -  Homo sapiens

RGD ID: 11632229
RS ID: rs17683448
ClinVar ID: CV351383
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC5A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 32,487,744
GRCh38 22 32,091,757
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.53726C>T
NC_000022.11:g.32091757C>T
NC_000022.10:g.32487744C>T
NP_000334.1:p.Ala425=
More... 		12/04/2020 synonymous 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


Variant Details
Variant Transcripts
Gene Symbol:SLC5A1
Accession:NM_000343
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 425
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSSTWSPKTTAVTRPVETHELIRNAADISIIVIYFVVVMAVGLWAMFSTNRGTVGGFFLAGRSMVWWPIGASLFASNIG
SGHFVGLAGTGAASGIAIGGFEWNALVLVVVLGWLFVPIYIKAGVVTMPEYLRKRFGGQRIQVYLSLLSLLLYIFTKISA
DIFSGAIFINLALGLNLYLAIFLLLAITALYTITGGLAAVIYTDTLQTVIMLVGSLILTGFAFHEVGGYDAFMEKYMKAI
PTIVSDGNTTFQEKCYTPRADSFHIFRDPLTGDLPWPGFIFGMSILTLWYWCTDQVIVQRCLSAKNMSHVKGGCILCGYL
KLMPMFIMVMPGMISRILYTEKIACVVPSECEKYCGTKVGCTNIAYPTLVVELMPNGLRGLMLSVMLASLMSSLTSIFNS
ASTLFTMDIYAKVRKRASEKELMIAGRLFILVLIGISIAWVPIVQSAQSGQLFDYIQSITSYLGPPIAAVFLLAIFWKRV
NEPGAFWGLILGLLIGISRMITEFAYGTGSCMEPSNCPTIICGVHYLYFAIILFAISFITIVVISLLTKPIPDVHLYRLC
WSLRNSKEERIDLDAEEENIQEGPKETIEIETQVPEKKKGIFRRAYDLFCGLEQHGAPKMTEEEEKAMKMKMTDTSEKPL
WRTVLNVNGIILVTVAVFCHAYFA*

Gene Symbol:SLC5A1
Accession:NM_001256314
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 298
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPEYLRKRFGGQRIQVYLSLLSLLLYIFTKISADIFSGAIFINLALGLNLYLAIFLLLAITALYTITGGLAAVIYTDTLQ
TVIMLVGSLILTGFAFHEVGGYDAFMEKYMKAIPTIVSDGNTTFQEKCYTPRADSFHIFRDPLTGDLPWPGFIFGMSILT
LWYWCTDQVIVQRCLSAKNMSHVKGGCILCGYLKLMPMFIMVMPGMISRILYTEKIACVVPSECEKYCGTKVGCTNIAYP
TLVVELMPNGLRGLMLSVMLASLMSSLTSIFNSASTLFTMDIYAKVRKRASEKELMIAGRLFILVLIGISIAWVPIVQSA
QSGQLFDYIQSITSYLGPPIAAVFLLAIFWKRVNEPGAFWGLILGLLIGISRMITEFAYGTGSCMEPSNCPTIICGVHYL
YFAIILFAISFITIVVISLLTKPIPDVHLYRLCWSLRNSKEERIDLDAEEENIQEGPKETIEIETQVPEKKKGIFRRAYD
LFCGLEQHGAPKMTEEEEKAMKMKMTDTSEKPLWRTVLNVNGIILVTVAVFCHAYFA*

Gene Symbol:SLC5A1
Accession:XM_011530331
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 425
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSSTWSPKTTAVTRPVETHELIRNAADISIIVIYFVVVMAVGLWAMFSTNRGTVGGFFLAGRSMVWWPIGASLFASNIG
SGHFVGLAGTGAASGIAIGGFEWNALVLVVVLGWLFVPIYIKAGVVTMPEYLRKRFGGQRIQVYLSLLSLLLYIFTKISA
DIFSGAIFINLALGLNLYLAIFLLLAITALYTITGGLAAVIYTDTLQTVIMLVGSLILTGFAFHEVGGYDAFMEKYMKAI
PTIVSDGNTTFQEKCYTPRADSFHIFRDPLTGDLPWPGFIFGMSILTLWYWCTDQVIVQRCLSAKNMSHVKGGCILCGYL
KLMPMFIMVMPGMISRILYTEKIACVVPSECEKYCGTKVGCTNIAYPTLVVELMPNGLRGLMLSVMLASLMSSLTSIFNS
ASTLFTMDIYAKVRKRASEKELMIAGREPFGD*
Variant Samples
Additional References at PubMed
PMID:24033266   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000402328 CLINVAR
  RCV000456112 CLINVAR
dbSNP (RS) rs17683448 CLINVAR
MedGen C0268186 CLINVAR
  CN169374 CLINVAR
NCBI Gene SLC5A1 CLINVAR
OMIM 182380 CLINVAR
  606824 CLINVAR
SNOMED CT 27943000 CLINVAR