RGD:151854460 Rat Genome Database

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Variant: RGD:151854460 -  Homo sapiens

RGD ID: 151854460
RS ID: rs752356764
ClinVar ID: CV1390889
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TALDO1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 763,792
GRCh38 11 763,792
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_006746.1:p.Ser228Asn
NM_006755.2:c.683G>A
NG_008160.1:g.21361G>A
NC_000011.10:g.763792G>A
More...
10/30/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:TALDO1
Accession:NM_006755
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 228
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSSPVKRQRMESALDQLKQFTTVVADTGDFHAIDEYKPQDATTNPSLILAAAQMPAYQELVEEAIAYGRKLGGSQEDQI
KNAIDKLFVLFGAEILKKIPGRVSTEVDARLSFDKDAMVARARRLIELYKEAGISKDRILIKLSSTWEGIQAGKELEEQH
GIHCNMTLLFSFAQAVACAEAGVTLISPFVGRILDWHVANTDKKSYEPLEDPGVKSVTKIYNYYKKFNYKTIVMGASFRN
TGEIKALAGCDFLTISPKLLGELLQDNAKLVPVLSAKAAQASDLEKIHLDEKSFRWLHNEDQMAVEKLSDGIRKFAADAV
KLERMLTERMFNAENGK*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001958418 CLINVAR
dbSNP (RS) rs752356764 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TALDO1 CLINVAR
OMIM 602063 CLINVAR