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SNP ID

rs56882797

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:72728072 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGAATGGAGAGGTTTCTTTTCCCA[A/G]CTCCTGACTTGCCTGCCCGCTCGCC

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	169	Missense Mutation	ACT,GCT	T8A	NP_001273675.1
NM_001286747.1	169	Intron			NP_001273676.1
NM_024808.3	169	Intron			NP_079084.3
XM_006719868.3	169	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	169	Intron			NP_001065243.1

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