Product Details

SNP ID

rs145876863

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:103106229 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGTGACAAAGAGGAGTCTACTGA[A/G]TTTTGCACTCAGGCACATCCTTGCC

Phenotype

MIM: 117143

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BDH2 PubMed Links

Gene Details

Gene

BDH2

Gene Name

3-hydroxybutyrate dehydrogenase, type 2

There are no transcripts associated with this gene.

Gene

CENPE

Gene Name

centromere protein E

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286734.1	8189	Missense Mutation	ACT,ATT	T2579I	NP_001273663.1
NM_001813.2	8189	Missense Mutation	ACT,ATT	T2700I	NP_001804.2
XM_011531544.2	8189	Missense Mutation	ACT,ATT	T2675I	XP_011529846.1
XM_011531545.2	8189	Missense Mutation	ACT,ATT	T2647I	XP_011529847.1
XM_011531546.2	8189	Missense Mutation	ACT,ATT	T2632I	XP_011529848.1
XM_011531547.2	8189	Missense Mutation	ACT,ATT	T2604I	XP_011529849.1
XM_011531548.2	8189	Missense Mutation	ACT,ATT	T2603I	XP_011529850.1
XM_011531549.2	8189	Missense Mutation	ACT,ATT	T2552I	XP_011529851.1
XM_017007659.1	8189	Missense Mutation	ACT,ATT	T2550I	XP_016863148.1

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