RGD:126740666 Rat Genome Database

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Variant: RGD:126740666 -  Homo sapiens

RGD ID: 126740666
RS ID: rs2037061648
ClinVar ID: CV997533
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMARCE1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 38,785,147
GRCh38 17 40,628,895
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003079.5:c.1126A>G
NG_032163.1:g.23957A>G
NC_000017.11:g.40628895T>C
NC_000017.10:g.38785147T>C
More... 		02/24/2020 missense variant uncertain significance Meningioma, familial, susceptibility to
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SMARCE1
Accession:NM_003079
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 376
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKRPSYAPPPTPAPATQMPSTPGFVGYNPYSHLAYNNYRLGGNPGTNSRVTASSGITIPKPPKPPDKPLMPYMRYSRKV
WDQVKASNPDLKLWEIGKIIGGMWRDLTDEEKQEYLNEYEAEKIEYNESMKAYHNSPAYLAYINAKSRAEAALEEESRQR
QSRMEKGEPYMSIQPAEDPDDYDDGFSMKHTATARFQRNHRLISEILSESVVPDVRSVVTTARMQVLKRQVQSLMVHQRK
LEAELLQIEERHQEKKRKFLESTDSFNNELKRLCGLKVEVDMEKIAAEIAQAEEQARKRQEEREKEAAEQAERSQSSIVP
EEEQAANKGEEKKDDENIPMETEETHLEETTESQQNGEEGTSTPEDKESGQEGVDGMAEEGTSDSNTGSESNSATVEEPP
TDPIPEDEKKE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001305307 CLINVAR
dbSNP (RS) rs2037061648 CLINVAR
MedGen C3551915 CLINVAR
NCBI Gene SMARCE1 CLINVAR
OMIM 603111 CLINVAR
  607174 CLINVAR