RGD:151746219 Rat Genome Database

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Variant: RGD:151746219 -  Homo sapiens

RGD ID: 151746219
RS ID: rs143237187
ClinVar ID: CV1365819
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TALDO1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 764,390
GRCh38 11 764,390
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006755.2:c.938G>A
NG_008160.1:g.21959G>A
NC_000011.10:g.764390G>A
NC_000011.9:g.764390G>A
More... 		10/06/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:TALDO1
Accession:NM_006755
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 313
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSSPVKRQRMESALDQLKQFTTVVADTGDFHAIDEYKPQDATTNPSLILAAAQMPAYQELVEEAIAYGRKLGGSQEDQI
KNAIDKLFVLFGAEILKKIPGRVSTEVDARLSFDKDAMVARARRLIELYKEAGISKDRILIKLSSTWEGIQAGKELEEQH
GIHCNMTLLFSFAQAVACAEAGVTLISPFVGRILDWHVANTDKKSYEPLEDPGVKSVTKIYNYYKKFSYKTIVMGASFRN
TGEIKALAGCDFLTISPKLLGELLQDNAKLVPVLSAKAAQASDLEKIHLDEKSFRWLHNEDQMAVEKLSDGIHKFAADAV
KLERMLTERMFNAENGK*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001893800 CLINVAR
dbSNP (RS) rs143237187 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TALDO1 CLINVAR
OMIM 602063 CLINVAR