RGD:156392830 Rat Genome Database

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Variant: RGD:156392830 -  Homo sapiens

RGD ID: 156392830
ClinVar ID: CV1924611
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC6A3  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 1,443,150
GRCh38 5 1,443,035
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.163G>T
NG_015885.1:g.7394G>T
NC_000005.10:g.1443035C>A
NC_000005.9:g.1443150C>A
More... 		07/11/2022 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: V to L (nonsynonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKSKCSVGLMSSVVAPAKEPNAVGPKEVELILVKEQNGVQLTSSTLTNPRQSPLEAQDRETWGKKIDFLLSVIGFAVDL
ANVWRFPYLCYKNGGGAFLVPYLLFMVIAGMPLFYMELALGQFNREGAAGVWKICPILKGVGFTVILISLYVGFFYNVII
AWALHYLFSSFTTELPWIHCNNSWNSPNCSDAHPGDSSGDSSGLNDTFGTTPAAEYFERGVLHLHQSHGIDDLGPPRWQL
TACLVLVIVLLYFSLWKGVKTSGKVVWITATMPYVVLTALLLRGVTLPGAIDGIRAYLSVDFYRLCEASVWIDAATQVCF
SLGVGFGVLIAFSSYNKFTNNCYRDAIVTTSINSLTSFSSGFVVFSFLGYMAQKHSVPIGDVAKDGPGLIFIIYPEAIAT
LPLSSAWAVVFFIMLLTLGIDSAMGGMESVITGLIDEFQLLHRHRELFTLFIVLATFLLSLFCVTNGGIYVFTLLDHFAA
GTSILFGVLIEAIGVAWFYGVGQFSDDIQQMTGQRPSLYWRLCWKLVSPCFLLFVVVVSIVTFRPPHYGAYIFPDWANAL
GWVIATSSMAMVPIYAAYKFCSLPGSFREKLAYAIAPEKDRELVDRGEVRQFTLRHWLKV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002654548 CLINVAR
MedGen C2751067 CLINVAR
NCBI Gene SLC6A3 CLINVAR
OMIM 126455 CLINVAR
  613135 CLINVAR