Product Details

SNP ID

rs187303852

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:103108929 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTGGCACAGGATCTTGTAAATTCC[A/G]TTCCTTGCATTGAGAGGGTGTAATT

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	7975	Missense Mutation	CGG,TGG	R2508W	NP_001273663.1
NM_001813.2	7975	Missense Mutation	CGG,TGG	R2629W	NP_001804.2
XM_011531544.2	7975	Missense Mutation	CGG,TGG	R2604W	XP_011529846.1
XM_011531545.2	7975	Missense Mutation	CGG,TGG	R2576W	XP_011529847.1
XM_011531546.2	7975	Missense Mutation	CGG,TGG	R2561W	XP_011529848.1
XM_011531547.2	7975	Missense Mutation	CGG,TGG	R2533W	XP_011529849.1
XM_011531548.2	7975	Missense Mutation	CGG,TGG	R2532W	XP_011529850.1
XM_011531549.2	7975	Missense Mutation	CGG,TGG	R2481W	XP_011529851.1
XM_017007659.1	7975	Missense Mutation	CGG,TGG	R2479W	XP_016863148.1

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