rs2144287574 Rat Genome Database

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Variant: rs2144287574 -  Homo sapiens

RGD ID: 152057544
RS ID: rs2144287574
ClinVar ID: CV1670604
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMAD2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 18 45,371,774
GRCh38 18 47,845,403
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001135937.3:c.1127A>G
NM_001003652.4:c.1217A>G
NM_005901.6:c.1217A>G
NG_029946.1:g.90742A>G
More... 		02/24/2022 missense variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:SMAD2
Accession:NM_005901
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 406
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSILPFTPPVVKRLLGWKKSAGGSGGAGGGEQNGQEEKWCEKAVKSLVKKLKKTGRLDELEKAITTQNCNTKCVTIPST
CSEIWGLSTPNTIDQWDTTGLYSFSEQTRSLDGRLQVSHRKGLPHVIYCRLWRWPDLHSHHELKAIENCEYAFNLKKDEV
CVNPYHYQRVETPVLPPVLVPRHTEILTELPPLDDYTHSIPENTNFPAGIEPQSNYIPETPPPGYISEDGETSDQQLNQS
MDTGSPAELSPTTLSPVNHSLDLQPVTYSEPAFWCSIAYYELNQRVGETFHASQPSLTVDGFTDPSNSERFCLGLLSNVN
RNATVEMTRRHIGRGVRLYYIGGEVFAECLSDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQ
GFEAVCQLTRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNGPLQWLDKVLTQMGSPSVRCSSMS*

Gene Symbol:SMAD2
Accession:NM_001003652
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 406
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSILPFTPPVVKRLLGWKKSAGGSGGAGGGEQNGQEEKWCEKAVKSLVKKLKKTGRLDELEKAITTQNCNTKCVTIPST
CSEIWGLSTPNTIDQWDTTGLYSFSEQTRSLDGRLQVSHRKGLPHVIYCRLWRWPDLHSHHELKAIENCEYAFNLKKDEV
CVNPYHYQRVETPVLPPVLVPRHTEILTELPPLDDYTHSIPENTNFPAGIEPQSNYIPETPPPGYISEDGETSDQQLNQS
MDTGSPAELSPTTLSPVNHSLDLQPVTYSEPAFWCSIAYYELNQRVGETFHASQPSLTVDGFTDPSNSERFCLGLLSNVN
RNATVEMTRRHIGRGVRLYYIGGEVFAECLSDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQ
GFEAVCQLTRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNGPLQWLDKVLTQMGSPSVRCSSMS*

Gene Symbol:SMAD2
Accession:NM_001135937
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 376
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSILPFTPPVVKRLLGWKKSAGGSGGAGGGEQNGQEEKWCEKAVKSLVKKLKKTGRLDELEKAITTQNCNTKCVTIPRS
LDGRLQVSHRKGLPHVIYCRLWRWPDLHSHHELKAIENCEYAFNLKKDEVCVNPYHYQRVETPVLPPVLVPRHTEILTEL
PPLDDYTHSIPENTNFPAGIEPQSNYIPETPPPGYISEDGETSDQQLNQSMDTGSPAELSPTTLSPVNHSLDLQPVTYSE
PAFWCSIAYYELNQRVGETFHASQPSLTVDGFTDPSNSERFCLGLLSNVNRNATVEMTRRHIGRGVRLYYIGGEVFAECL
SDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQGFEAVCQLTRMCTIRMSFVKGWGAEYRRQT
VTSTPCWIELHLNGPLQWLDKVLTQMGSPSVRCSSMS*

Gene Symbol:SMAD2
Accession:XM_017025749
Location:INTRON

Gene Symbol:SMAD2
Accession:XM_047437507
Location:INTRON

Gene Symbol:SMAD2
Accession:XM_047437508
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002226124 CLINVAR
dbSNP (RS) rs2144287574 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SMAD2 CLINVAR
OMIM 601366 CLINVAR