Product Details

SNP ID

rs200520797

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:197512014 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGTAGGGGGTGGTGGCGGTCAGGG[C/T]GTGTGTGACAGCATCGATGACAGGG

Phenotype

MIM: 603063

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

BDH1 PubMed Links

Gene Details

Gene

BDH1

Gene Name

3-hydroxybutyrate dehydrogenase, type 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004051.4	2607	Missense Mutation	ACC,GCC	T305A	NP_004042.1
NM_203314.2	2607	Missense Mutation	ACC,GCC	T305A	NP_976059.1
NM_203315.2	2607	Missense Mutation	ACC,GCC	T305A	NP_976060.1
XM_005269352.3	2607	Missense Mutation	ACC,GCC	T305A	XP_005269409.1
XM_005269355.4	2607	Missense Mutation	ACC,GCC	T168A	XP_005269412.1
XM_011513067.2	2607	Missense Mutation	ACC,GCC	T309A	XP_011511369.1
XM_017007007.1	2607	Missense Mutation	ACC,GCC	T305A	XP_016862496.1
XM_017007008.1	2607	Missense Mutation	ACC,GCC	T292A	XP_016862497.1
XM_017007009.1	2607	Missense Mutation	ACC,GCC	T286A	XP_016862498.1
XM_017007010.1	2607	Missense Mutation	ACC,GCC	T286A	XP_016862499.1
XM_017007011.1	2607	Missense Mutation	ACC,GCC	T292A	XP_016862500.1
XM_017007012.1	2607	Missense Mutation	ACC,GCC	T292A	XP_016862501.1
XM_017007013.1	2607	Intron			XP_016862502.1
XM_017007014.1	2607	Missense Mutation	ACC,GCC	T168A	XP_016862503.1
XM_017007015.1	2607	Missense Mutation	ACC,GCC	T168A	XP_016862504.1

Gene

LOC100129516

Gene Name

uncharacterized LOC100129516

There are no transcripts associated with this gene.

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