RGD:13522697 Rat Genome Database

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Variant: RGD:13522697 -  Homo sapiens

RGD ID: 13522697
RS ID: rs1255447387
ClinVar ID: CV491633
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC6A3  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 1,443,170
GRCh38 5 1,443,055
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.143C>G
NG_015885.1:g.7374C>G
NC_000005.10:g.1443055G>C
NC_000005.9:g.1443170G>C
More... 		02/21/2017 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC6A3
Accession:NM_001044
Location:EXON
Amino Acid Prediction: T to S (nonsynonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKSKCSVGLMSSVVAPAKEPNAVGPKEVELILVKEQNGVQLTSSTLSNPRQSPVEAQDRETWGKKIDFLLSVIGFAVDL
ANVWRFPYLCYKNGGGAFLVPYLLFMVIAGMPLFYMELALGQFNREGAAGVWKICPILKGVGFTVILISLYVGFFYNVII
AWALHYLFSSFTTELPWIHCNNSWNSPNCSDAHPGDSSGDSSGLNDTFGTTPAAEYFERGVLHLHQSHGIDDLGPPRWQL
TACLVLVIVLLYFSLWKGVKTSGKVVWITATMPYVVLTALLLRGVTLPGAIDGIRAYLSVDFYRLCEASVWIDAATQVCF
SLGVGFGVLIAFSSYNKFTNNCYRDAIVTTSINSLTSFSSGFVVFSFLGYMAQKHSVPIGDVAKDGPGLIFIIYPEAIAT
LPLSSAWAVVFFIMLLTLGIDSAMGGMESVITGLIDEFQLLHRHRELFTLFIVLATFLLSLFCVTNGGIYVFTLLDHFAA
GTSILFGVLIEAIGVAWFYGVGQFSDDIQQMTGQRPSLYWRLCWKLVSPCFLLFVVVVSIVTFRPPHYGAYIFPDWANAL
GWVIATSSMAMVPIYAAYKFCSLPGSFREKLAYAIAPEKDRELVDRGEVRQFTLRHWLKV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000592060 CLINVAR
dbSNP (RS) rs1255447387 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene SLC6A3 CLINVAR
OMIM 126455 CLINVAR