rs2141948059 Rat Genome Database

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Variant: rs2141948059 -  Homo sapiens

RGD ID: 126922168
RS ID: rs2141948059
ClinVar ID: CV1049114
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IDH3A  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 78,452,474
GRCh38 15 78,160,132
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005530.3:c.215A>C
NC_000015.10:g.78160132A>C
NC_000015.9:g.78452474A>C
NP_005521.1:p.Gln72Pro
 02/12/2020 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:IDH3A
Accession:XM_047432430
Location:5UTRS;INTRON

Gene Symbol:IDH3A
Accession:XM_047432428
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKIFDAAKAPIQWEERNVTAIPGPGGKWMIPSEAKESMDKNKMGLKGPLKTPIAAGHPSMNLLLRKTFDLYANVRPCVSI
EGYKTPYTDVNIVTIRENTEGEYSGIEHVIVDGVVQSIKLITEGASKRIAEFAFEYARNNHRSNVTAVHKANIMRMSDGL
FLQKCREVAESCKDIKFNEMYLDTVCLNMVQDPSQFDVLVMPNLYGDILSDLCAGLIGGLGVTPSGNIGANGVAIFESVH
GTAPDIAGKDMANPTALLLSAVMMLRHMGLFDHAARIEAACFATIKDGKSLTKDLGGNAKCSDFTEEICRRVKDLD*

Gene Symbol:IDH3A
Accession:NM_005530
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGPAWISKVSRLLGAFHNPKQVTRGFTGGVQTVTLIPGDGIGPEISAAVMKIFDAAKAPIQWEERNVTAIPGPGGKWMI
PSEAKESMDKNKMGLKGPLKTPIAAGHPSMNLLLRKTFDLYANVRPCVSIEGYKTPYTDVNIVTIRENTEGEYSGIEHVI
VDGVVQSIKLITEGASKRIAEFAFEYARNNHRSNVTAVHKANIMRMSDGLFLQKCREVAESCKDIKFNEMYLDTVCLNMV
QDPSQFDVLVMPNLYGDILSDLCAGLIGGLGVTPSGNIGANGVAIFESVHGTAPDIAGKDMANPTALLLSAVMMLRHMGL
FDHAARIEAACFATIKDGKSLTKDLGGNAKCSDFTEEICRRVKDLD*

Gene Symbol:IDH3A
Accession:XM_024449911
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKIFDAAKAPIQWEERNVTAIPGPGGKWMIPSEAKESMDKNKMGLKGPLKTPIAAGHPSMNLLLRKTFDLYANVRPCVSI
EGYKTPYTDVNIVTIRENTEGEYSGIEHVIVDGVVQSIKLITEGASKRIAEFAFEYARNNHRSNVTAVHKANIMRMSDGL
FLQKCREVAESCKDIKFNEMYLDTVCLNMVQDPSQFDVLVMPNLYGDILSDLCAGLIGGLGVTPSGNIGANGVAIFESVH
GTAPDIAGKDMANPTALLLSAVMMLRHMGLFDHAARIEAACFATIKDGKSLTKDLGGNAKCSDFTEEICRRVKDLD*

Gene Symbol:IDH3A
Accession:XM_047432429
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKIFDAAKAPIQWEERNVTAIPGPGGKWMIPSEAKESMDKNKMGLKGPLKTPIAAGHPSMNLLLRKTFDLYANVRPCVSI
EGYKTPYTDVNIVTIRENTEGEYSGIEHVIVDGVVQSIKLITEGASKRIAEFAFEYARNNHRSNVTAVHKANIMRMSDGL
FLQKCREVAESCKDIKFNEMYLDTVCLNMVQDPSQFDVLVMPNLYGDILSDLCAGLIGGLGVTPSGNIGANGVAIFESVH
GTAPDIAGKDMANPTALLLSAVMMLRHMGLFDHAARIEAACFATIKDGKSLTKDLGGNAKCSDFTEEICRRVKDLD*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001364349 CLINVAR
dbSNP (RS) rs2141948059 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene IDH3A CLINVAR
OMIM 601149 CLINVAR