Product Details

SNP ID
rs113113572
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:72728188 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGGGTTGGGGGCGACGCCTCCTTC[A/G]CACTCCATCCAGGGAAGCCGGCTGC
Phenotype
MIM: 610510 MIM: 613448
Polymorphism
A/G, 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_001286746.1 285 Silent Mutation TCA,TCG S46S NP_001273675.1
NM_001286747.1 285 Intron NP_001273676.1
NM_024808.3 285 Intron NP_079084.3
XM_006719868.3 285 Intron XP_006719931.2
Gene
MZT1
Gene Name
mitotic spindle organizing protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001071775.2 285 Intron NP_001065243.1

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