RGD:11637040 Rat Genome Database

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Variant: RGD:11637040 -  Homo sapiens

RGD ID: 11637040
RS ID: rs752249343
ClinVar ID: CV270527
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SOX3  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 139,586,828
GRCh38 X 140,504,663
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009387.1:g.5398G>T
NC_000023.11:g.140504663C>A
NC_000023.10:g.139586828C>A
NP_005625.2:p.Gly133Val
More... 		10/09/2021 missense variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SOX3
Accession:NM_005634
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPVRENSSGARSPRVPADLARSILISLPFPPDSLAHRPPSSAPTESQGLFTVAAPAPGAPSPPATLAHLLPAPAMYSLL
ETELKNPVGTPTQAAGTGGPAAPGGAGKSSANAAGGANSGGGSSGGASGGGGVTDQDRVKRPMNAFMVWSRGQRRKMALE
NPKMHNSEISKRLGADWKLLTDAEKRPFIDEAKRLRAVHMKEYPDYKYRPRRKTKTLLKKDKYSLPSGLLPPGAAAAAAA
AAAAAAAASSPVGVGQRLDTYTHVNGWANGAYSLVQEQLGYAQPPSMSSPPPPPALPPMHRYDMAGLQYSPMMPPGAQSY
MNVAAAAAAASGYGGMAPSATAAAAAAYGQQPATAAAAAAAAAAMSLGPMGSVVKSEPSSPPPAIASHSQRACLGDLRDM
ISMYLPPGGDAADAASPLPGGRLHGVHQHYQGAGTAVNGTVPLTHI*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000278996 CLINVAR
  RCV002374470 CLINVAR
dbSNP (RS) rs752249343 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene SOX3 CLINVAR
OMIM 313430 CLINVAR