RGD:126770970 Rat Genome Database

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Variant: RGD:126770970 -  Homo sapiens

RGD ID: 126770970
RS ID: rs769406487
ClinVar ID: CV1032168
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACSBG1  IDH3A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 78,461,325
GRCh38 15 78,168,983
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001199377.2:c.*2461C>T
NM_015162.5:c.*2461C>T
NM_005530.3:c.1079G>A
NC_000015.10:g.78168983G>A
More... 		01/02/2020 3 prime utr variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:ACSBG1
Accession:NM_015162
Location:3UTRS;EXON

Gene Symbol:ACSBG1
Accession:XM_011521390
Location:3UTRS;EXON

Gene Symbol:ACSBG1
Accession:XM_047432273
Location:3UTRS;EXON

Gene Symbol:ACSBG1
Accession:NM_001199377
Location:3UTRS;EXON

Gene Symbol:IDH3A
Accession:XM_047432430
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 251
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNLLLRKTFDLYANVRPCVSIEGYKTPYTDVNIVTIRENTEGEYSGIEHVIVDGVVQSIKLITEGASKRIAEFAFEYARN
NHRSNVTAVHKANIMRMSDGLFLQKCREVAESCKDIKFNEMYLDTVCLNMVQDPSQFDVLVMPNLYGDILSDLCAGLIGG
LGVTPSGNIGANGVAIFESVHGTAPDIAGKDMANPTALLLSAVMMLRHMGLFDHAARIEAACFATIKDGKSLTKDLGGNA
KCSDFTEEICHRVKDLD*

Gene Symbol:IDH3A
Accession:XM_047432428
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 310
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKIFDAAKAPIQWEERNVTAIQGPGGKWMIPSEAKESMDKNKMGLKGPLKTPIAAGHPSMNLLLRKTFDLYANVRPCVSI
EGYKTPYTDVNIVTIRENTEGEYSGIEHVIVDGVVQSIKLITEGASKRIAEFAFEYARNNHRSNVTAVHKANIMRMSDGL
FLQKCREVAESCKDIKFNEMYLDTVCLNMVQDPSQFDVLVMPNLYGDILSDLCAGLIGGLGVTPSGNIGANGVAIFESVH
GTAPDIAGKDMANPTALLLSAVMMLRHMGLFDHAARIEAACFATIKDGKSLTKDLGGNAKCSDFTEEICHRVKDLD*

Gene Symbol:IDH3A
Accession:XM_047432429
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 310
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKIFDAAKAPIQWEERNVTAIQGPGGKWMIPSEAKESMDKNKMGLKGPLKTPIAAGHPSMNLLLRKTFDLYANVRPCVSI
EGYKTPYTDVNIVTIRENTEGEYSGIEHVIVDGVVQSIKLITEGASKRIAEFAFEYARNNHRSNVTAVHKANIMRMSDGL
FLQKCREVAESCKDIKFNEMYLDTVCLNMVQDPSQFDVLVMPNLYGDILSDLCAGLIGGLGVTPSGNIGANGVAIFESVH
GTAPDIAGKDMANPTALLLSAVMMLRHMGLFDHAARIEAACFATIKDGKSLTKDLGGNAKCSDFTEEICHRVKDLD*

Gene Symbol:IDH3A
Accession:NM_005530
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 360
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGPAWISKVSRLLGAFHNPKQVTRGFTGGVQTVTLIPGDGIGPEISAAVMKIFDAAKAPIQWEERNVTAIQGPGGKWMI
PSEAKESMDKNKMGLKGPLKTPIAAGHPSMNLLLRKTFDLYANVRPCVSIEGYKTPYTDVNIVTIRENTEGEYSGIEHVI
VDGVVQSIKLITEGASKRIAEFAFEYARNNHRSNVTAVHKANIMRMSDGLFLQKCREVAESCKDIKFNEMYLDTVCLNMV
QDPSQFDVLVMPNLYGDILSDLCAGLIGGLGVTPSGNIGANGVAIFESVHGTAPDIAGKDMANPTALLLSAVMMLRHMGL
FDHAARIEAACFATIKDGKSLTKDLGGNAKCSDFTEEICHRVKDLD*

Gene Symbol:IDH3A
Accession:XM_024449911
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 310
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKIFDAAKAPIQWEERNVTAIQGPGGKWMIPSEAKESMDKNKMGLKGPLKTPIAAGHPSMNLLLRKTFDLYANVRPCVSI
EGYKTPYTDVNIVTIRENTEGEYSGIEHVIVDGVVQSIKLITEGASKRIAEFAFEYARNNHRSNVTAVHKANIMRMSDGL
FLQKCREVAESCKDIKFNEMYLDTVCLNMVQDPSQFDVLVMPNLYGDILSDLCAGLIGGLGVTPSGNIGANGVAIFESVH
GTAPDIAGKDMANPTALLLSAVMMLRHMGLFDHAARIEAACFATIKDGKSLTKDLGGNAKCSDFTEEICHRVKDLD*

Gene Symbol:ACSBG1
Accession:XM_011521391
Location:INTRON

Gene Symbol:ACSBG1
Accession:XM_017022025
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001344775 CLINVAR
dbSNP (RS) rs769406487 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene ACSBG1 CLINVAR
  IDH3A CLINVAR
OMIM 601149 CLINVAR
  614362 CLINVAR