Product Details

SNP ID

rs201692365

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:123149661 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCACTCGGACTTTAAAGAAGAGAA[A/C]GAGAGGCTCCTGCCCGCGGGCTCGC

Phenotype

MIM: 603719 MIM: 600647

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

BUB3 PubMed Links

Gene Details

Gene

BUB3

Gene Name

BUB3, mitotic checkpoint protein

There are no transcripts associated with this gene.

Gene

HMX2

Gene Name

H6 family homeobox 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005519.1	617	Silent Mutation	AAA,AAC	K120N	NP_005510.1
XM_005269743.3	617	Missense Mutation	AAA,AAC	K120N	XP_005269800.1

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