RGD:42722898 Rat Genome Database

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Variant: RGD:42722898 -  Homo sapiens

RGD ID: 42722898
RS ID: rs545784401
ClinVar ID: CV985322
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BUB1B  LOC107984763  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 40,477,828
GRCh38 15 40,185,627
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_489:g.29619C>T
NG_016338.1:g.29619C>T
NP_001202.5:p.Ala348Val
NM_001211.5:c.1043C>T
More... 		01/22/2020 missense variant uncertain significance TOTAL PREMATURE CHROMATID SEPARATION TRAIT; Warburton-Anyane-Yeboa syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BUB1B
Accession:NM_001211
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 348
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVKKEGGALSEAMSLEGDEWELSKENVQPLRQGRIMSTLQGALAQESACNNTLQQQKRAFEYEIRFYTGNDPLDVWDR
YISWTEQNYPQGGKESNMSTLLERAVEALQGEKRYYSDPRFLNLWLKLGRLCNEPLDMYSYLHNQGIGVSLAQFYISWAE
EYEARENFRKADAIFQEGIQQKAEPLERLQSQHRQFQARVSRQTLLALEKEEEEEVFESSVPQRSTLAELKSKGKKTARA
PIIRVGGALKAPSQNRGLQNPFPQQMQNNSRITVFDENADEASTAELSKPTVQPWIAPPMPRAKENELQAGPWNTGRSLE
HRPRGNTASLIAVPAVLPSFTPYVEETVRQPVMTPCKIEPSINHILSTRKPGKEEGDPLQRVQSHQQASEEKKEKMMYCK
EKIYAGVGEFSFEEIRAEVFRKKLKEQREAELLTSAEKRAEMQKQIEEMEKKLKEIQTTQQERTGDQQEETMPTKETTKL
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 RCV001292902 CLINVAR
  RCV002543019 CLINVAR
dbSNP (RS) rs545784401 CLINVAR
MedGen C1850343 CLINVAR
  C1864389 CLINVAR
NCBI Gene BUB1B CLINVAR
OMIM 176430 CLINVAR
  257300 CLINVAR
  602860 CLINVAR