RGD:15172180 Rat Genome Database

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Variant: RGD:15172180 -  Homo sapiens

RGD ID: 15172180
RS ID: rs112870818
ClinVar ID: CV717254
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SUMO3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 46,226,897
GRCh38 21 44,806,982
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001286416.2:c.395C>T
NP_001273345.1:p.Pro132Leu
NM_006936.3:c.281C>T
NG_033969.1:g.16148C>T
More... 		08/02/2017 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SUMO3
Accession:NM_001286416
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 132
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSEEKPKEGVKTENDHINLKVAGQDGSVVQFKIKRHTPLSKLMKAYCERQVRHLAPPQSLPVCALVLCVPGIPRARASRG
WTQMQLPEGLSMRQIRFRFDGQPINETDTPAQLEMEDEDTIDVFQQQTGGVLESSLAGHSF*

Gene Symbol:SUMO3
Accession:NM_006936
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSEEKPKEGVKTENDHINLKVAGQDGSVVQFKIKRHTPLSKLMKAYCERQGLSMRQIRFRFDGQPINETDTPAQLEMEDE
DTIDVFQQQTGGVLESSLAGHSF*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000972349 CLINVAR
dbSNP (RS) rs112870818 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SUMO3 CLINVAR
OMIM 602231 CLINVAR