RGD:14734225 Rat Genome Database

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Variant: RGD:14734225 -  Homo sapiens

RGD ID: 14734225
RS ID: rs1162139233
ClinVar ID: CV645851
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMARCE1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 38,798,769
GRCh38 17 40,642,517
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.94A>G
NG_032163.1:g.10335A>G
NC_000017.11:g.40642517T>C
NC_000017.10:g.38798769T>C
More... 		09/09/2018 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: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKRPSYAPPPTPAPATQMPSTPGFVGYNPYGHLAYNNYRLGGNPGTNSRVTASSGITIPKPPKPPDKPLMPYMRYSRKV
WDQVKASNPDLKLWEIGKIIGGMWRDLTDEEKQEYLNEYEAEKIEYNESMKAYHNSPAYLAYINAKSRAEAALEEESRQR
QSRMEKGEPYMSIQPAEDPDDYDDGFSMKHTATARFQRNHRLISEILSESVVPDVRSVVTTARMQVLKRQVQSLMVHQRK
LEAELLQIEERHQEKKRKFLESTDSFNNELKRLCGLKVEVDMEKIAAEIAQAEEQARKRQEEREKEAAEQAERSQSSIVP
EEEQAANKGEEKKDDENIPMETEETHLEETTESQQNGEEGTSTPEDKESGQEGVDSMAEEGTSDSNTGSESNSATVEEPP
TDPIPEDEKKE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000802647 CLINVAR
dbSNP (RS) rs1162139233 CLINVAR
MedGen C3551915 CLINVAR
NCBI Gene SMARCE1 CLINVAR
OMIM 603111 CLINVAR
  607174 CLINVAR