RGD:404994663 Rat Genome Database

RGD:404994663 Rat Genome Database

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Variant: RGD:404994663 - Homo sapiens

RGD ID:

404994663

ClinVar ID:

CV2995884

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	18	45,371,712
GRCh38	18	47,845,341

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001135937.3:c.1189C>T NM_001003652.4:c.1279C>T NM_005901.6:c.1279C>T NG_029946.2:g.90531C>T More...	08/21/2024	nonsense	uncertain significance	none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:	SMAD2
Accession:	NM_001135937
Location:	EXON
Amino Acid Prediction:	R to * (nonsynonymous)
Amino Acid Position:	397

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSILPFTPPVVKRLLGWKKSAGGSGGAGGGEQNGQEEKWCEKAVKSLVKKLKKTGRLDELEKAITTQNCNTKCVTIPRS LDGRLQVSHRKGLPHVIYCRLWRWPDLHSHHELKAIENCEYAFNLKKDEVCVNPYHYQRVETPVLPPVLVPRHTEILTEL PPLDDYTHSIPENTNFPAGIEPQSNYIPETPPPGYISEDGETSDQQLNQSMDTGSPAELSPTTLSPVNHSLDLQPVTYSE PAFWCSIAYYELNQRVGETFHASQPSLTVDGFTDPSNSERFCLGLLSNVNRNATVEMTRRHIGRGVRLYYIGGEVFAECL SDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQGFEAVYQLTRMCTIRMSFVKGWGAEYRQT VTSTPCWIELHLNGPLQWLDKVLTQMGSPSVRCSSMS

Gene Symbol:	SMAD2
Accession:	NM_001003652
Location:	EXON
Amino Acid Prediction:	R to * (nonsynonymous)
Amino Acid Position:	427

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSILPFTPPVVKRLLGWKKSAGGSGGAGGGEQNGQEEKWCEKAVKSLVKKLKKTGRLDELEKAITTQNCNTKCVTIPST CSEIWGLSTPNTIDQWDTTGLYSFSEQTRSLDGRLQVSHRKGLPHVIYCRLWRWPDLHSHHELKAIENCEYAFNLKKDEV CVNPYHYQRVETPVLPPVLVPRHTEILTELPPLDDYTHSIPENTNFPAGIEPQSNYIPETPPPGYISEDGETSDQQLNQS MDTGSPAELSPTTLSPVNHSLDLQPVTYSEPAFWCSIAYYELNQRVGETFHASQPSLTVDGFTDPSNSERFCLGLLSNVN RNATVEMTRRHIGRGVRLYYIGGEVFAECLSDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQ GFEAVYQLTRMCTIRMSFVKGWGAEYRQTVTSTPCWIELHLNGPLQWLDKVLTQMGSPSVRCSSMS

Gene Symbol:	MADH2
Accession:	NM_005901
Location:	EXON
Amino Acid Prediction:	R to * (nonsynonymous)
Amino Acid Position:	427

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSILPFTPPVVKRLLGWKKSAGGSGGAGGGEQNGQEEKWCEKAVKSLVKKLKKTGRLDELEKAITTQNCNTKCVTIPST CSEIWGLSTPNTIDQWDTTGLYSFSEQTRSLDGRLQVSHRKGLPHVIYCRLWRWPDLHSHHELKAIENCEYAFNLKKDEV CVNPYHYQRVETPVLPPVLVPRHTEILTELPPLDDYTHSIPENTNFPAGIEPQSNYIPETPPPGYISEDGETSDQQLNQS MDTGSPAELSPTTLSPVNHSLDLQPVTYSEPAFWCSIAYYELNQRVGETFHASQPSLTVDGFTDPSNSERFCLGLLSNVN RNATVEMTRRHIGRGVRLYYIGGEVFAECLSDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQ GFEAVYQLTRMCTIRMSFVKGWGAEYRQTVTSTPCWIELHLNGPLQWLDKVLTQMGSPSVRCSSMS

Gene Symbol:	SMAD2
Accession:	XM_017025749
Location:	INTRON

Gene Symbol:	SMAD2
Accession:	XM_047437508
Location:	INTRON

Gene Symbol:	SMAD2
Accession:	XM_047437507
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV003692496	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	SMAD2	CLINVAR
OMIM	601366	CLINVAR