RGD:155976834 Rat Genome Database

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Variant: RGD:155976834 -  Homo sapiens

RGD ID: 155976834
ClinVar ID: CV2136212
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC6A3  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 1,432,648
GRCh38 5 1,432,533
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000005.9:g.1432648C>A
NP_001035.1:p.Gly195Val
NM_001044.5:c.584G>T
NG_015885.1:g.17896G>T
More... 		08/05/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC6A3
Accession:NM_001044
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 195
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKSKCSVGLMSSVVAPAKEPNAVGPKEVELILVKEQNGVQLTSSTLTNPRQSPVEAQDRETWGKKIDFLLSVIGFAVDL
ANVWRFPYLCYKNGGGAFLVPYLLFMVIAGMPLFYMELALGQFNREGAAGVWKICPILKGVGFTVILISLYVGFFYNVII
AWALHYLFSSFTTELPWIHCNNSWNSPNCSDAHPVDSSGDSSGLNDTFGTTPAAEYFERGVLHLHQSHGIDDLGPPRWQL
TACLVLVIVLLYFSLWKGVKTSGKVVWITATMPYVVLTALLLRGVTLPGAIDGIRAYLSVDFYRLCEASVWIDAATQVCF
SLGVGFGVLIAFSSYNKFTNNCYRDAIVTTSINSLTSFSSGFVVFSFLGYMAQKHSVPIGDVAKDGPGLIFIIYPEAIAT
LPLSSAWAVVFFIMLLTLGIDSAMGGMESVITGLIDEFQLLHRHRELFTLFIVLATFLLSLFCVTNGGIYVFTLLDHFAA
GTSILFGVLIEAIGVAWFYGVGQFSDDIQQMTGQRPSLYWRLCWKLVSPCFLLFVVVVSIVTFRPPHYGAYIFPDWANAL
GWVIATSSMAMVPIYAAYKFCSLPGSFREKLAYAIAPEKDRELVDRGEVRQFTLRHWLKV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002995895 CLINVAR
  RCV004068353 CLINVAR
MedGen C0950123 CLINVAR
  C2751067 CLINVAR
NCBI Gene SLC6A3 CLINVAR
OMIM 126455 CLINVAR