RGD:13522665 Rat Genome Database

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Variant: RGD:13522665 -  Homo sapiens

RGD ID: 13522665
RS ID: rs1049936089
ClinVar ID: CV492170
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC10A1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 70,253,022
GRCh38 14 69,786,305
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000014.9:g.69786305A>G
NC_000014.8:g.70253022A>G
NP_003040.1:p.Ile120Thr
NM_003049.4:c.359T>C
 03/07/2017 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC10A1
Accession:NM_003049
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 120
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAHNASAPFNFTLPPNFGKRPTDLALSVILVFMLFFIMLSLGCTMEFSKIKAHLWKPKGLAIALVAQYGIMPLTAFVLG
KVFRLKNIEALAILVCGCSPGGNLSNVFSLAMKGDMNLSTVMTTCSTFCALGMMPLLLYIYSRGIYDGDLKDKVPYKGIV
ISLVLVLIPCTIGIVLKSKRPQYMRYVIKGGMIIILLCSVAVTVLSAINVGKSIMFAMTPLLIATSSLMPFIGFLLGYVL
SALFCLNGRCRRTVSMETGCQNVQLCSTILNVAFPPEVIGPLFFFPLLYMIFQLGEGLLLIAIFWCYEKFKTPKDKTKMI
YTAATTEETIPGALGNGTYKGEDCSPCTA*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000592020 CLINVAR
dbSNP (RS) rs1049936089 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene SLC10A1 CLINVAR
OMIM 182396 CLINVAR