RGD:15161625 Rat Genome Database

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Variant: RGD:15161625 -  Homo sapiens

RGD ID: 15161625
RS ID: rs984766680
ClinVar ID: CV758708
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC6A5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 20,622,842
GRCh38 11 20,601,296
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001318369.2:c.-393C>T
NM_004211.5:c.171C>T
NG_013086.2:g.6897C>T
NM_004211.5:c.171C>T
More... 		06/06/2018 5 prime utr variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC6A5
Accession:NM_001318369
Location:5UTRS;EXON

Gene Symbol:SLC6A5
Accession:NM_004211
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 57
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDCSAPKEMNKLPANSPEAAAAQGHPDGPCAPRTSPEQELPAAAAPPPPRVPRSASTGAQTFQSADARACEAERPGVGSC
KLSSPRAQAASAALRDLREAQGAQASPPPGSSGPGNALHCKIPFLRGPEGDANVSVGKGTLERNNTPVVGWVNMSQSTVV
LATDGITSVLPGSVATVATQEDEQGDENKARGNWSSKLDFILSMVGYAVGLGNVWRFPYLAFQNGGGAFLIPYLMMLALA
GLPIFFLEVSLGQFASQGPVSVWKAIPALQGCGIAMLIISVLIAIYYNVIICYTLFYLFASFVSVLPWGSCNNPWNTPEC
KDKTKLLLDSCVISDHPKIQIKNSTFCMTAYPNVTMVNFTSQANKTFVSGSEEYFKYFVLKISAGIEYPGEIRWPLALCL
FLAWVIVYASLAKGIKTSGKVVYFTATFPYVVLVILLIRGVTLPGAGAGIWYFITPKWEKLTDATVWKDAATQIFFSLSA
AWGGLITLSSYNKFHNNCYRDTLIVTCTNSATSIFAGFVIFSVIGFMANERKVNIENVADQGPGIAFVVYPEALTRLPLS
PFWAIIFFLMLLTLGLDTMFATIETIVTSISDEFPKYLRTHKPVFTLGCCICFFIMGFPMITQGGIYMFQLVDTYAASYA
LVIIAIFELVGISYVYGLQRFCEDIEMMIGFQPNIFWKVCWAFVTPTILTFILCFSFYQWEPMTYGSYRYPNWSMVLGWL
MLACSVIWIPIMFVIKMHLAPGRFIERLKLVCSPQPDWGPFLAQHRGERYKNMIDPLGTSSLGLKLPVKDLELGTQC*

Gene Symbol:SLC6A5
Accession:XM_017018544
Location:INTRON

Gene Symbol:SLC6A5
Accession:XR_007062528
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000925722 CLINVAR
dbSNP (RS) rs984766680 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene SLC6A5 CLINVAR
OMIM 604159 CLINVAR