RGD:155702454 Rat Genome Database

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Variant: RGD:155702454 -  Homo sapiens

RGD ID: 155702454
ClinVar ID: CV1838299
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMAD2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 18 45,372,110
GRCh38 18 47,845,739
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001003652.4:c.1059T>C
NM_005901.6:c.1059T>C
NM_001135937.3:c.969T>C
NG_029946.2:g.90133T>C
More... 		08/10/2020 synonymous variant likely benign none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SMAD2
Accession:NM_001135937
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 323
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSILPFTPPVVKRLLGWKKSAGGSGGAGGGEQNGQEEKWCEKAVKSLVKKLKKTGRLDELEKAITTQNCNTKCVTIPRS
LDGRLQVSHRKGLPHVIYCRLWRWPDLHSHHELKAIENCEYAFNLKKDEVCVNPYHYQRVETPVLPPVLVPRHTEILTEL
PPLDDYTHSIPENTNFPAGIEPQSNYIPETPPPGYISEDGETSDQQLNQSMDTGSPAELSPTTLSPVNHSLDLQPVTYSE
PAFWCSIAYYELNQRVGETFHASQPSLTVDGFTDPSNSERFCLGLLSNVNRNATVEMTRRHIGRGVRLYYIGGEVFAECL
SDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQGFEAVYQLTRMCTIRMSFVKGWGAEYRRQT
VTSTPCWIELHLNGPLQWLDKVLTQMGSPSVRCSSMS*

Gene Symbol:SMAD2
Accession:NM_001003652
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 353
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSILPFTPPVVKRLLGWKKSAGGSGGAGGGEQNGQEEKWCEKAVKSLVKKLKKTGRLDELEKAITTQNCNTKCVTIPST
CSEIWGLSTPNTIDQWDTTGLYSFSEQTRSLDGRLQVSHRKGLPHVIYCRLWRWPDLHSHHELKAIENCEYAFNLKKDEV
CVNPYHYQRVETPVLPPVLVPRHTEILTELPPLDDYTHSIPENTNFPAGIEPQSNYIPETPPPGYISEDGETSDQQLNQS
MDTGSPAELSPTTLSPVNHSLDLQPVTYSEPAFWCSIAYYELNQRVGETFHASQPSLTVDGFTDPSNSERFCLGLLSNVN
RNATVEMTRRHIGRGVRLYYIGGEVFAECLSDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQ
GFEAVYQLTRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNGPLQWLDKVLTQMGSPSVRCSSMS*

Gene Symbol:SMAD2
Accession:NM_005901
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 353
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSILPFTPPVVKRLLGWKKSAGGSGGAGGGEQNGQEEKWCEKAVKSLVKKLKKTGRLDELEKAITTQNCNTKCVTIPST
CSEIWGLSTPNTIDQWDTTGLYSFSEQTRSLDGRLQVSHRKGLPHVIYCRLWRWPDLHSHHELKAIENCEYAFNLKKDEV
CVNPYHYQRVETPVLPPVLVPRHTEILTELPPLDDYTHSIPENTNFPAGIEPQSNYIPETPPPGYISEDGETSDQQLNQS
MDTGSPAELSPTTLSPVNHSLDLQPVTYSEPAFWCSIAYYELNQRVGETFHASQPSLTVDGFTDPSNSERFCLGLLSNVN
RNATVEMTRRHIGRGVRLYYIGGEVFAECLSDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQ
GFEAVYQLTRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNGPLQWLDKVLTQMGSPSVRCSSMS*

Gene Symbol:SMAD2
Accession:XM_047437508
Location:INTRON

Gene Symbol:SMAD2
Accession:XM_017025749
Location:INTRON

Gene Symbol:SMAD2
Accession:XM_047437507
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002401712 CLINVAR
  RCV003660955 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene SMAD2 CLINVAR
OMIM 601366 CLINVAR