RGD:13515679 Rat Genome Database

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Variant: RGD:13515679 -  Homo sapiens

RGD ID: 13515679
RS ID: rs147226818
ClinVar ID: CV493369
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC10A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 70,245,238
GRCh38 14 69,778,521
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_003040.1:p.Arg252His
NC_000014.8:g.70245238C>T
NC_000014.9:g.69778521C>T
NM_003049.3:c.755G>A
More... 		11/07/2023 missense variant pathogenic|likely pathogenic|uncertain significance none provided; NTCP deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC10A1
Accession:NM_003049
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 252
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAHNASAPFNFTLPPNFGKRPTDLALSVILVFMLFFIMLSLGCTMEFSKIKAHLWKPKGLAIALVAQYGIMPLTAFVLG
KVFRLKNIEALAILVCGCSPGGNLSNVFSLAMKGDMNLSIVMTTCSTFCALGMMPLLLYIYSRGIYDGDLKDKVPYKGIV
ISLVLVLIPCTIGIVLKSKRPQYMRYVIKGGMIIILLCSVAVTVLSAINVGKSIMFAMTPLLIATSSLMPFIGFLLGYVL
SALFCLNGRCRHTVSMETGCQNVQLCSTILNVAFPPEVIGPLFFFPLLYMIFQLGEGLLLIAIFWCYEKFKTPKDKTKMI
YTAATTEETIPGALGNGTYKGEDCSPCTA*
Variant Samples
Additional References at PubMed
PMID:24867799   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000594593 CLINVAR
  RCV001358772 CLINVAR
  RCV003392438 CLINVAR
dbSNP (RS) rs147226818 CLINVAR
MedGen C3661900 CLINVAR
  C5543243 CLINVAR
NCBI Gene SLC10A1 CLINVAR
OMIM 182396 CLINVAR
  619256 CLINVAR
OMIM Allele 182396.0001 CLINVAR