RGD:15176201 Rat Genome Database

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Variant: RGD:15176201 -  Homo sapiens

RGD ID: 15176201
RS ID: rs147976313
ClinVar ID: CV743143
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SASH3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 128,926,741
GRCh38 X 129,792,765
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_018990.4:c.730C>T
NG_013260.1:g.17850C>T
NC_000023.11:g.129792765C>T
NC_000023.10:g.128926741C>T
More... 		07/31/2018 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SASH3
Accession:NM_018990
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 244
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRRKPSNASEKEPTQKKKLSLQRSSSFKDFAKSKPSSPVVSEKEFNLDDNIPEDDSGVPTPEDAGKSGKKLGKKWRAVI
SRTMNRKMGKMMVKALSEEMADTLEEGSASPTSPDYSLDSPGPEKMALAFSEQEEHELPVLSRQASTGSELCSPSPGSGS
FGEEPPAPQYTGPFCGRARVHTDFTPSPYDHDSLKLQKGDVIQIIEKPPVGTWLGLLNGKVGSFKFIYVDVLPEEAVGHA
RPSCRQSKGKRPKPKTLHELLERIGLEEHTSTLLLNGYQTLEDFKELRETHLNELNIMDPQHRAKLLTAAELLLDYDTGS
EEAEEGAESSQEPVAHTVSEPKVDIPRDSGCFEGSESGRDDAELAGTEEQLQGLSLAGAP*

Gene Symbol:SASH3
Accession:XM_006724763
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 294
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRRKPSNASEKEPTQKKKLSLQRSSSFKDFAKSKPSSPVVSEKEFNLDDNIPEDDSGVPTPEDAGKSGKKLGKKWRAVI
SRTMNRKMGKMMVKALSEEMADTLEEGSASPTSPDYSLDSPGPEKMALAFSEQEEHELPVLSRQASTGSELCSPSPGSGS
FGEEPPAPQYTGPFCGRARVHTDFTPSPYDHDSLKLQVRSASGLLWSLAGCAQKGSWTEPGYDSVSGGQGPPYPLSLAPF
SSPLPQQKGDVIQIIEKPPVGTWLGLLNGKVGSFKFIYVDVLPEEAVGHARPSCRQSKGKRPKPKTLHELLERIGLEEHT
STLLLNGYQTLEDFKELRETHLNELNIMDPQHRAKLLTAAELLLDYDTGSEEAEEGAESSQEPVAHTVSEPKVDIPRDSG
CFEGSESGRDDAELAGTEEQLQGLSLAGAP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000906380 CLINVAR
dbSNP (RS) rs147976313 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SASH3 CLINVAR
OMIM 300441 CLINVAR