RGD:155711721 Rat Genome Database

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Variant: RGD:155711721 -  Homo sapiens

RGD ID: 155711721
ClinVar ID: CV1833226
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BUB1B  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 40,457,364
GRCh38 15 40,165,163
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_489t1:c.146C>T
LRG_489:g.9155C>T
NG_016338.1:g.9155C>T
NC_000015.10:g.40165163C>T
More... 		06/14/2021 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BUB1B
Accession:NM_001211
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 49
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVKKEGGALSEAMSLEGDEWELSKENVQPLRQGRIMSTLQGALAQEFACNNTLQQQKRAFEYEIRFYTGNDPLDVWDR
YISWTEQNYPQGGKESNMSTLLERAVEALQGEKRYYSDPRFLNLWLKLGRLCNEPLDMYSYLHNQGIGVSLAQFYISWAE
EYEARENFRKADAIFQEGIQQKAEPLERLQSQHRQFQARVSRQTLLALEKEEEEEVFESSVPQRSTLAELKSKGKKTARA
PIIRVGGALKAPSQNRGLQNPFPQQMQNNSRITVFDENADEASTAELSKPTVQPWIAPPMPRAKENELQAGPWNTGRSLE
HRPRGNTASLIAVPAVLPSFTPYVEETARQPVMTPCKIEPSINHILSTRKPGKEEGDPLQRVQSHQQASEEKKEKMMYCK
EKIYAGVGEFSFEEIRAEVFRKKLKEQREAELLTSAEKRAEMQKQIEEMEKKLKEIQTTQQERTGDQQEETMPTKETTKL
QIASESQKIPGMTLSSSVCQVNCCARETSLAENIWQEQPHSKGPSVPFSIFDEFLLSEKKNKSPPADPPRVLAQRRPLAV
LKTSESITSNEDVSPDVCDEFTGIEPLSEDAIITGFRNVTICPNPEDTCDFARAARFVSTPFHEIMSLKDLPSDPERLLP
EEDLDVKTSEDQQTACGTIYSQTLSIKKLSPIIEDSREATHSSGFSGSSASVASTSSIKCLQIPEKLELTNETSENPTQS
PWCSQYRRQLLKSLPELSASAELCIEDRPMPKLEIEKEIELGNEDYCIKREYLICEDYKLFWVAPRNSAELTVIKVSSQP
VPWDFYINLKLKERLNEDFDHFCSCYQYQDGCIVWHQYINCFTLQDLLQHSEYITHEITVLIIYNLLTIVEMLHKAEIVH
GDLSPRCLILRNRIHDPYDCNKNNQALKIVDFSYSVDLRVQLDVFTLSGFRTVQILEGQKILANCSSPYQVDLFGIADLA
HLLLFKEHLQVFWDGSFWKLSQNISELKDGELWNKFFVRILNANDEATVSVLGELAAEMNGVFDTTFQSHLNKALWKVGK
LTSPGALLFQ*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002396906 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene BUB1B CLINVAR
OMIM 602860 CLINVAR