Product Details

SNP ID
rs199887786
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:110638130 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGAATATTCAACATAACATGAAAA[A/T]ATTCATTCCACATATCCAAATGAGG
Phenotype
MIM: 602452
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
BUB1 PubMed Links

Gene Details

Gene
BUB1
Gene Name
BUB1 mitotic checkpoint serine/threonine kinase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278616.1 3144 Missense Mutation TAT,TTT Y1011F NP_001265545.1
NM_001278617.1 3144 Missense Mutation TAT,TTT Y974F NP_001265546.1
NM_004336.4 3144 Missense Mutation TAT,TTT Y1031F NP_004327.1

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