RGD:26888306 Rat Genome Database

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Variant: RGD:26888306 -  Homo sapiens

RGD ID: 26888306
RS ID: rs1852473995
ClinVar ID: CV850655
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC6A5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 20,622,978
GRCh38 11 20,601,432
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004211.5:c.307G>A
NC_000011.10:g.20601432G>A
NC_000011.9:g.20622978G>A
NM_004211.3:c.307G>A
More... 		12/18/2019 5 prime utr variant uncertain significance HYPEREKPLEXIA 3, AUTOSOMAL DOMINANT; HYPEREKPLEXIA 3, AUTOSOMAL RECESSIVE
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:SLC6A5
Accession:NM_004211
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDCSAPKEMNKLPANSPEAAAAQGHPDGPCAPRTSPEQELPAAAAPPPPRVPRSASTGAQTFQSADARACEAERPGVGSC
KLSSPRAQAASAALRDLREAQGTQASPPPGSSGPGNALHCKIPFLRGPEGDANVSVGKGTLERNNTPVVGWVNMSQSTVV
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 RCV001045223 CLINVAR
dbSNP (RS) rs1852473995 CLINVAR
MedGen C3553288 CLINVAR
NCBI Gene SLC6A5 CLINVAR
OMIM 604159 CLINVAR
  614618 CLINVAR