rs1206236536 Rat Genome Database

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Variant: rs1206236536 -  Homo sapiens

RGD ID: 151724385
RS ID: rs1206236536
ClinVar ID: CV1439936
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KIF11  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 94,399,647
GRCh38 10 92,639,890
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004523.4:c.2257A>T
NG_032580.1:g.51823A>T
NC_000010.11:g.92639890A>T
NP_004514.2:p.Asn753Tyr
More... 		08/31/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:KIF11
Accession:NM_004523
Location:EXON
Amino Acid Prediction: N to Y (nonsynonymous)
Amino Acid Position: 753
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASQPNSSAKKKEEKGKNIQVVVRCRPFNLAERKASAHSIVECDPVRKEVSVRTGGLADKSSRKTYTFDMVFGASTKQID
VYRSVVCPILDEVIMGYNCTIFAYGQTGTGKTFTMEGERSPNEEYTWEEDPLAGIIPRTLHQIFEKLTDNGTEFSVKVSL
LEIYNEELFDLLNPSSDVSERLQMFDDPRNKRGVIIKGLEEITVHNKDEVYQILEKGAAKRTTAATLMNAYSSRSHSVFS
VTIHMKETTIDGEELVKIGKLNLVDLAGSENIGRSGAVDKRAREAGNINQSLLTLGRVITALVERTPHVPYRESKLTRIL
QDSLGGRTRTSIIATISPASLNLEETLSTLEYAHRAKNILNKPEVNQKLTKKALIKEYTEEIERLKRDLAAAREKNGVYI
SEENFRVMSGKLTVQEEQIVELIEKIGAVEEELNRVTELFMDNKNELDQCKSDLQNKTQELETTQKHLQETKLQLVKEEY
ITSALESTEEKLHDAASKLLNTVEETTKDVSGLHSKLDRKKAVDQHNAEAQDIFGKNLNSLFNNMEELIKDGSSKQKAML
EVHKTLFGNLLSSSVSALDTITTVALGSLTSIPENVSTHVSQIFNMILKEQSLAAESKTVLQELINVLKTDLLSSLEMIL
SPTVVSILKINSQLKHIFKTSLTVADKIEDQKKELDGFLSILCNNLHELQENTICSLVESQKQCGNLTEDLKTIKQTHSQ
ELCKLMNLWTERFCALEEKCENIQKPLSSVQEYIQQKSKDIVNKMTFHSQKFCADSDGFSQELRNFNQEGTKLVEESVKH
SDKLNGNLEKISQETEQRCESLNTRTVYFSEQWVSSLNEREQELHNLLEVVSQCCEASSSDITEKSDGRKAAHEKQHNIF
LDQMTIDEDKLIAQNLELNETIKIGLTKLNCFLEQDLKLDIPTGTTPQRKSYLYPSTLVRTEPREHLLDQLKRKQPELLM
MLNCSENNKEETIPDVDVEEAVLGQYTEEPLSQEPSVDAGVDCSSIGGVPFFQHKKSHGKDKENRGINTLERSKVEETTE
HLVTKSRLPLRAQINL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002040496 CLINVAR
dbSNP (RS) rs1206236536 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene KIF11 CLINVAR
OMIM 148760 CLINVAR