RGD:13836931 Rat Genome Database

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Variant: RGD:13836931 -  Homo sapiens

RGD ID: 13836931
RS ID: rs756182169
ClinVar ID: CV588214
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC10A1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 70,252,866
GRCh38 14 69,786,149
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003049.4:c.515T>C
NC_000014.9:g.69786149A>G
NC_000014.8:g.70252866A>G
NP_003040.1:p.Ile172Thr
More...
05/11/2018 missense variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC10A1
Accession:NM_003049
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 172
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAHNASAPFNFTLPPNFGKRPTDLALSVILVFMLFFIMLSLGCTMEFSKIKAHLWKPKGLAIALVAQYGIMPLTAFVLG
KVFRLKNIEALAILVCGCSPGGNLSNVFSLAMKGDMNLSIVMTTCSTFCALGMMPLLLYIYSRGIYDGDLKDKVPYKGIV
ISLVLVLIPCTTGIVLKSKRPQYMRYVIKGGMIIILLCSVAVTVLSAINVGKSIMFAMTPLLIATSSLMPFIGFLLGYVL
SALFCLNGRCRRTVSMETGCQNVQLCSTILNVAFPPEVIGPLFFFPLLYMIFQLGEGLLLIAIFWCYEKFKTPKDKTKMI
YTAATTEETIPGALGNGTYKGEDCSPCTA*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000733185 CLINVAR
  RCV002535316 CLINVAR
dbSNP (RS) rs756182169 CLINVAR
MedGen C0950123 CLINVAR
  CN517202 CLINVAR
NCBI Gene SLC10A1 CLINVAR
OMIM 182396 CLINVAR