RGD:156410445 Rat Genome Database

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Variant: RGD:156410445 -  Homo sapiens

RGD ID: 156410445
ClinVar ID: CV1958383
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC6A3  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 1,403,128
GRCh38 5 1,403,013
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001044.5:c.1676C>G
NG_015885.1:g.47416C>G
NC_000005.10:g.1403013G>C
NC_000005.9:g.1403128G>C
More... 		04/12/2022 missense variant uncertain significance DOPAMINE TRANSPORTER DEFICIENCY SYNDROME
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC6A3
Accession:NM_001044
Location:EXON
Amino Acid Prediction: A to G (nonsynonymous)
Amino Acid Position: 559
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKSKCSVGLMSSVVAPAKEPNAVGPKEVELILVKEQNGVQLTSSTLTNPRQSPVEAQDRETWGKKIDFLLSVIGFAVDL
ANVWRFPYLCYKNGGGAFLVPYLLFMVIAGMPLFYMELALGQFNREGAAGVWKICPILKGVGFTVILISLYVGFFYNVII
AWALHYLFSSFTTELPWIHCNNSWNSPNCSDAHPGDSSGDSSGLNDTFGTTPAAEYFERGVLHLHQSHGIDDLGPPRWQL
TACLVLVIVLLYFSLWKGVKTSGKVVWITATMPYVVLTALLLRGVTLPGAIDGIRAYLSVDFYRLCEASVWIDAATQVCF
SLGVGFGVLIAFSSYNKFTNNCYRDAIVTTSINSLTSFSSGFVVFSFLGYMAQKHSVPIGDVAKDGPGLIFIIYPEAIAT
LPLSSAWAVVFFIMLLTLGIDSAMGGMESVITGLIDEFQLLHRHRELFTLFIVLATFLLSLFCVTNGGIYVFTLLDHFAA
GTSILFGVLIEAIGVAWFYGVGQFSDDIQQMTGQRPSLYWRLCWKLVSPCFLLFVVVVSIVTFRPPHYGAYIFPDWANGL
GWVIATSSMAMVPIYAAYKFCSLPGSFREKLAYAIAPEKDRELVDRGEVRQFTLRHWLKV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002587155 CLINVAR
MedGen C2751067 CLINVAR
NCBI Gene SLC6A3 CLINVAR
OMIM 126455 CLINVAR
  613135 CLINVAR