RGD:15150818 Rat Genome Database

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Variant: RGD:15150818 -  Homo sapiens

RGD ID: 15150818
RS ID: rs1589151449
ClinVar ID: CV687667
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NODAL  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 72,192,791
GRCh38 10 70,433,035
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001329906.2:c.546A>G
NM_018055.4:c.945A>G
NP_001316835.1:p.Pro182=
NP_060525.3:p.Pro315=
More... 		07/16/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NODAL
Accession:NM_018055
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 315
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHAHCLPFLLHAWWALLQAGAATVATALLRTRGQPSSPSPLAYMLSLYRDPLPRADIIRSLQAEDVAVDGQNWTFAFDFS
FLSQQEDLAWAELRLQLSSPVDLPTEGSLAIEIFHQPKPDTEQASDSCLERFQMDLFTVTLSQVTFSLGSMVLEVTRPLS
KWLKHPGALEKQMSRVAGECWPRPPTPPATNVLLMLYSNLSQEQRQLGGSTLLWEAESSWRAQEGQLSWEWGKRHRRHHL
PDRSQLCRKVKFQVDFNLIGWGSWIIYPKQYNAYRCEGECPNPVGEEFHPTNHAYIQSLLKRYQPHRVPSTCCAPVKTKP
LSMLYVDNGRVLLDHHKDMIVEECGCL*

Gene Symbol:NODAL
Accession:XM_024448028
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 182
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLFTVTLSQVTFSLGSMVLEVTRPLSKWLKHPGALEKQMSRVAGECWPRPPTPPATNVLLMLYSNLSQEQRQLGGSTLL
WEAESSWRAQEGQLSWEWGKRHRRHHLPDRSQLCRKVKFQVDFNLIGWGSWIIYPKQYNAYRCEGECPNPVGEEFHPTNH
AYIQSLLKRYQPHRVPSTCCAPVKTKPLSMLYVDNGRVLLDHHKDMIVEECGCL*

Gene Symbol:NODAL
Accession:NM_001329906
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 182
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLFTVTLSQVTFSLGSMVLEVTRPLSKWLKHPGALEKQMSRVAGECWPRPPTPPATNVLLMLYSNLSQEQRQLGGSTLL
WEAESSWRAQEGQLSWEWGKRHRRHHLPDRSQLCRKVKFQVDFNLIGWGSWIIYPKQYNAYRCEGECPNPVGEEFHPTNH
AYIQSLLKRYQPHRVPSTCCAPVKTKPLSMLYVDNGRVLLDHHKDMIVEECGCL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000867124 CLINVAR
  RCV003928390 CLINVAR
dbSNP (RS) rs1589151449 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NODAL CLINVAR
OMIM 601265 CLINVAR