rs886043702 Rat Genome Database

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Variant: rs886043702 -  Homo sapiens

RGD ID: 11641786
RS ID: rs886043702
ClinVar ID: CV271937
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IDH3B  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 2,640,773
GRCh38 20 2,660,127
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012149.1:g.9071A>G
NC_000020.11:g.2660127T>C
NC_000020.10:g.2640773T>C
NP_008830.2:p.Tyr273Cys
More... 		05/24/2016 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:IDH3B
Accession:NM_174855
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 273
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALSGVRWLTRALVSAGNPGAWRGLSTSAAAHAASRSQAEDVRVEGSFPVTMLPGDGVGPELMHAVKEVFKAAAVPVEF
QEHHLSEVQNMASEEKLEQVLSSMKENKVAIIGKIHTPMEYKGELASYDMRLRRKLDLFANVVHVKSLPGYMTRHNNLDL
VIIREQTEGEYSSLEHESARGVIECLKIVTRAKSQRIAKFAFDYATKKGRGKVTAVHKANIMKLGDGLFLQCCEEVAELY
PKIKFETMIIDNCCMQLVQNPYQFDVLVMPNLCGNIIDNLAAGLVGGAGVVPGESYSAEYAVFETGARHPFAQAVGRNIA
NPTAMLLSASNMLRHLNLEYHSSMIADAVKKVIKVGKVRTSDMGGYATCHDFTEAVIAALPHP*

Gene Symbol:IDH3B
Accession:NM_001330763
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 273
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALSGVRWLTRALVSAGNPGAWRGLSTSAAAHAASRSQAEDVRVEGSFPVTMLPGDGVGPELMHAVKEVFKAAAVPVEF
QEHHLSEVQNMASEEKLEQVLSSMKENKVAIIGKIHTPMEYKGELASYDMRLRRKLDLFANVVHVKSLPGYMTRHNNLDL
VIIREQTEGEYSSLEHESARGVIECLKIVTRAKSQRIAKFAFDYATKKGRGKVTAVHKANIMKLGDGLFLQCCEEVAELY
PKIKFETMIIDNCCMQLVQNPYQFDVLVMPNLCGNIIDNLAAGLVGGAGVVPGESYSAEYAVFETGARHPFAQAVGRNIA
NPTAMLLSASNMLRHLNLEYHSSMIADAVKKVIKVGKVRTRDMGGYSTTTDFIKSVIGHLQTKGSNL*

Gene Symbol:IDH3B
Accession:NM_006899
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 273
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALSGVRWLTRALVSAGNPGAWRGLSTSAAAHAASRSQAEDVRVEGSFPVTMLPGDGVGPELMHAVKEVFKAAAVPVEF
QEHHLSEVQNMASEEKLEQVLSSMKENKVAIIGKIHTPMEYKGELASYDMRLRRKLDLFANVVHVKSLPGYMTRHNNLDL
VIIREQTEGEYSSLEHESARGVIECLKIVTRAKSQRIAKFAFDYATKKGRGKVTAVHKANIMKLGDGLFLQCCEEVAELY
PKIKFETMIIDNCCMQLVQNPYQFDVLVMPNLCGNIIDNLAAGLVGGAGVVPGESYSAEYAVFETGARHPFAQAVGRNIA
NPTAMLLSASNMLRHLNLEYHSSMIADAVKKVIKVGKVRTRDMGGYSTTTDFIKSVIGHLQTKGS*

Gene Symbol:IDH3B
Accession:NM_001258384
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 273
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALSGVRWLTRALVSAGNPGAWRGLSTSAAAHAASRSQAEDVRVEGSFPVTMLPGDGVGPELMHAVKEVFKAAAVPVEF
QEHHLSEVQNMASEEKLEQVLSSMKENKVAIIGKIHTPMEYKGELASYDMRLRRKLDLFANVVHVKSLPGYMTRHNNLDL
VIIREQTEGEYSSLEHESARGVIECLKIVTRAKSQRIAKFAFDYATKKGRGKVTAVHKANIMKLGDGLFLQCCEEVAELY
PKIKFETMIIDNCCMQLVQNPYQFDVLVMPNLCGNIIDNLAAGLVGGAGVVPGESYSAEYAVFETGARHPFAQAVGRNIA
NPTAMLLSASNMLRHLNLEYHSSMIADAVKKVIKVGKIPSAVPSFLLHPLPFSWAI*

Gene Symbol:IDH3B
Accession:XR_001754265
Location:EXON;NON-CODING

Gene Symbol:IDH3B
Accession:NR_136344
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000362984 CLINVAR
dbSNP (RS) rs886043702 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene IDH3B CLINVAR
OMIM 604526 CLINVAR