Product Details

SNP ID
rs11248415
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.10:123155678 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATAGGATCCAACGCATGCCTGGAG[G/T]GGAGGACTAGATCATCAATTGAAAA
Phenotype
MIM: 603719 MIM: 600647
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
BUB3 PubMed Links

Gene Details

Gene
BUB3
Gene Name
BUB3, mitotic checkpoint protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001007793.2 458 Missense Mutation AGG,AGT R72S NP_001007794.1
NM_004725.3 458 Missense Mutation AGG,AGT R72S NP_004716.1
Gene
HMX2
Gene Name
H6 family homeobox 2
There are no transcripts associated with this gene.

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