rs748723428 Rat Genome Database

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Variant: rs748723428 -  Homo sapiens

RGD ID: 151879754
RS ID: rs748723428
ClinVar ID: CV1388316
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BUB1B  BUB1B-PAK6  LOC107984763  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 40,512,856
GRCh38 15 40,220,655
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_489:g.64647G>A
NG_016338.1:g.64647G>A
NG_033169.1:g.8228G>A
NC_000015.10:g.40220655G>A
More... 		07/17/2023 intron variant uncertain significance Warburton-Anyane-Yeboa syndrome
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:BUB1B-PAK6
Accession:NM_001128629
Location:5UTRS;INTRON

Gene Symbol:BUB1B
Accession:NM_001211
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 1017
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVKKEGGALSEAMSLEGDEWELSKENVQPLRQGRIMSTLQGALAQESACNNTLQQQKRAFEYEIRFYTGNDPLDVWDR
YISWTEQNYPQGGKESNMSTLLERAVEALQGEKRYYSDPRFLNLWLKLGRLCNEPLDMYSYLHNQGIGVSLAQFYISWAE
EYEARENFRKADAIFQEGIQQKAEPLERLQSQHRQFQARVSRQTLLALEKEEEEEVFESSVPQRSTLAELKSKGKKTARA
PIIRVGGALKAPSQNRGLQNPFPQQMQNNSRITVFDENADEASTAELSKPTVQPWIAPPMPRAKENELQAGPWNTGRSLE
HRPRGNTASLIAVPAVLPSFTPYVEETARQPVMTPCKIEPSINHILSTRKPGKEEGDPLQRVQSHQQASEEKKEKMMYCK
EKIYAGVGEFSFEEIRAEVFRKKLKEQREAELLTSAEKRAEMQKQIEEMEKKLKEIQTTQQERTGDQQEETMPTKETTKL
QIASESQKIPGMTLSSSVCQVNCCARETSLAENIWQEQPHSKGPSVPFSIFDEFLLSEKKNKSPPADPPRVLAQRRPLAV
LKTSESITSNEDVSPDVCDEFTGIEPLSEDAIITGFRNVTICPNPEDTCDFARAARFVSTPFHEIMSLKDLPSDPERLLP
EEDLDVKTSEDQQTACGTIYSQTLSIKKLSPIIEDSREATHSSGFSGSSASVASTSSIKCLQIPEKLELTNETSENPTQS
PWCSQYRRQLLKSLPELSASAELCIEDRPMPKLEIEKEIELGNEDYCIKREYLICEDYKLFWVAPRNSAELTVIKVSSQP
VPWDFYINLKLKERLNEDFDHFCSCYQYQDGCIVWHQYINCFTLQDLLQHSEYITHEITVLIIYNLLTIVEMLHKAEIVH
GDLSPRCLILRNRIHDPYDCNKNNQALKIVDFSYSVDLRVQLDVFTLSGFRTVQILEGQKILANCSSPYQVDLFGIADLA
HLLLFKEHLQVFWDGSFWKLSQNISELKDGELWNKFFVRILNANDEATVSVLGELATEMNGVFDTTFQSHLNKALWKVGK
LTSPGALLFQ*

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001982361 CLINVAR
  RCV003170084 CLINVAR
dbSNP (RS) rs748723428 CLINVAR
MedGen C0950123 CLINVAR
  C1850343 CLINVAR
NCBI Gene BUB1B CLINVAR
  BUB1B-PAK6 CLINVAR
OMIM 257300 CLINVAR
  602860 CLINVAR