Product Details

SNP ID
rs142135071
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:72729022 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCTGTTTTAAATCCTTTTGAAAGT[C/T]CTAGTGATTATTCTAATCTCCATGA
Phenotype
MIM: 610510 MIM: 613448
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
BORA PubMed Links

Gene Details

Gene
BORA
Gene Name
bora, aurora kinase A activator
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286746.1 356 Missense Mutation CCT,TCT P103S NP_001273675.1
NM_001286747.1 356 UTR 5 NP_001273676.1
NM_024808.3 356 Missense Mutation CCT,TCT P88S NP_079084.3
XM_006719868.3 356 Missense Mutation CCT,TCT P88S XP_006719931.2
Gene
MZT1
Gene Name
mitotic spindle organizing protein 1
There are no transcripts associated with this gene.

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