rs35611758 Rat Genome Database

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Variant: rs35611758 -  Homo sapiens

RGD ID: 11550585
RS ID: rs35611758
ClinVar ID: CV255170
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BUB1B  BUB1B-PAK6  LOC107984763  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 40,512,906
GRCh38 15 40,220,705
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.3099A>G
LRG_489:g.64697A>G
NG_016338.1:g.64697A>G
NC_000015.10:g.40220705A>G
More... 		12/08/2020 intron variant|synonymous variant benign antenatal <1 / 1 000 000 AllHighlyPenetrant; 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-PAK6
Accession:NM_001128629
Location:5UTRS;INTRON

Gene Symbol:BUB1B-PAK6
Accession:NM_001128628
Location:5UTRS;INTRON

Gene Symbol:BUB1B
Accession:NM_001211
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 1033
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVKKEGGALSEAMSLEGDEWELSKENVQPLRQGRIMSTLQGALAQESACNNTLQQQKRAFEYEIRFYTGNDPLDVWDR
YISWTEQNYPQGGKESNMSTLLERAVEALQGEKRYYSDPRFLNLWLKLGRLCNEPLDMYSYLHNQGIGVSLAQFYISWAE
EYEARENFRKADAIFQEGIQQKAEPLERLQSQHRQFQARVSRQTLLALEKEEEEEVFESSVPQRSTLAELKSKGKKTARA
PIIRVGGALKAPSQNRGLQNPFPQQMQNNSRITVFDENADEASTAELSKPTVQPWIAPPMPRAKENELQAGPWNTGRSLE
HRPRGNTASLIAVPAVLPSFTPYVEETARQPVMTPCKIEPSINHILSTRKPGKEEGDPLQRVQSHQQASEEKKEKMMYCK
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 RCV000251949 CLINVAR
  RCV000471759 CLINVAR
  RCV001689822 CLINVAR
  RCV003316389 CLINVAR
dbSNP (RS) rs35611758 CLINVAR
MedGen C0346629 CLINVAR
  C1850343 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene 106821730 CLINVAR
  BUB1B CLINVAR
OMIM 114500 CLINVAR
  257300 CLINVAR
  602860 CLINVAR