RGD:12888133 Rat Genome Database

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Variant: RGD:12888133 -  Homo sapiens

RGD ID: 12888133
RS ID: rs747886467
ClinVar ID: CV400244
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BUB1B  LOC107984763  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 40,491,909
GRCh38 15 40,199,708
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_489t1:c.1382A>C
LRG_489:g.43700A>C
NG_016338.1:g.43700A>C
NC_000015.10:g.40199708A>C
More... 		05/07/2019 missense variant uncertain significance antenatal <1 / 1 000 000 Colorectal cancer, somatic; Malignant Colorectal Neoplasm; none provided; Warburton-Anyane-Yeboa syndrome
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Colon cancer  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:BUB1B
Accession:NM_001211
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 461
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVKKEGGALSEAMSLEGDEWELSKENVQPLRQGRIMSTLQGALAQESACNNTLQQQKRAFEYEIRFYTGNDPLDVWDR
YISWTEQNYPQGGKESNMSTLLERAVEALQGEKRYYSDPRFLNLWLKLGRLCNEPLDMYSYLHNQGIGVSLAQFYISWAE
EYEARENFRKADAIFQEGIQQKAEPLERLQSQHRQFQARVSRQTLLALEKEEEEEVFESSVPQRSTLAELKSKGKKTARA
PIIRVGGALKAPSQNRGLQNPFPQQMQNNSRITVFDENADEASTAELSKPTVQPWIAPPMPRAKENELQAGPWNTGRSLE
HRPRGNTASLIAVPAVLPSFTPYVEETARQPVMTPCKIEPSINHILSTRKPGKEEGDPLQRVQSHQQASEEKKEKMMYCK
EKIYAGVGEFSFEEIRAEVFRKKLKEQREAELLTSAEKRAEMQKQIEEMEKKLKEIQTTQPERTGDQQEETMPTKETTKL
QIASESQKIPGMTLSSSVCQVNCCARETSLAENIWQEQPHSKGPSVPFSIFDEFLLSEKKNKSPPADPPRVLAQRRPLAV
LKTSESITSNEDVSPDVCDEFTGIEPLSEDAIITGFRNVTICPNPEDTCDFARAARFVSTPFHEIMSLKDLPSDPERLLP
EEDLDVKTSEDQQTACGTIYSQTLSIKKLSPIIEDSREATHSSGFSGSSASVASTSSIKCLQIPEKLELTNETSENPTQS
PWCSQYRRQLLKSLPELSASAELCIEDRPMPKLEIEKEIELGNEDYCIKREYLICEDYKLFWVAPRNSAELTVIKVSSQP
VPWDFYINLKLKERLNEDFDHFCSCYQYQDGCIVWHQYINCFTLQDLLQHSEYITHEITVLIIYNLLTIVEMLHKAEIVH
GDLSPRCLILRNRIHDPYDCNKNNQALKIVDFSYSVDLRVQLDVFTLSGFRTVQILEGQKILANCSSPYQVDLFGIADLA
HLLLFKEHLQVFWDGSFWKLSQNISELKDGELWNKFFVRILNANDEATVSVLGELAAEMNGVFDTTFQSHLNKALWKVGK
LTSPGALLFQ*

Gene Symbol:LOC107984763
Accession:XR_001751506
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001197272 CLINVAR
  RCV001753859 CLINVAR
  RCV002230307 CLINVAR
  RCV002522757 CLINVAR
dbSNP (RS) rs747886467 CLINVAR
MedGen C0346629 CLINVAR
  C0950123 CLINVAR
  C1850343 CLINVAR
  C3661900 CLINVAR
NCBI Gene BUB1B CLINVAR
OMIM 114500 CLINVAR
  257300 CLINVAR
  602860 CLINVAR