Product Details

SNP ID
rs71325611
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:197512004 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGGTAGCGGGTGTAGGGGGTGGTG[C/G]CGGTCAGGGCGTGTGTGACAGCATC
Phenotype
MIM: 603063
Polymorphism
C/G, Transversion 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 2617 Missense Mutation GCC,GGC A308G NP_004042.1
NM_203314.2 2617 Missense Mutation GCC,GGC A308G NP_976059.1
NM_203315.2 2617 Missense Mutation GCC,GGC A308G NP_976060.1
XM_005269352.3 2617 Missense Mutation GCC,GGC A308G XP_005269409.1
XM_005269355.4 2617 Missense Mutation GCC,GGC A171G XP_005269412.1
XM_011513067.2 2617 Missense Mutation GCC,GGC A312G XP_011511369.1
XM_017007007.1 2617 Missense Mutation GCC,GGC A308G XP_016862496.1
XM_017007008.1 2617 Missense Mutation GCC,GGC A295G XP_016862497.1
XM_017007009.1 2617 Missense Mutation GCC,GGC A289G XP_016862498.1
XM_017007010.1 2617 Missense Mutation GCC,GGC A289G XP_016862499.1
XM_017007011.1 2617 Missense Mutation GCC,GGC A295G XP_016862500.1
XM_017007012.1 2617 Missense Mutation GCC,GGC A295G XP_016862501.1
XM_017007013.1 2617 Intron XP_016862502.1
XM_017007014.1 2617 Missense Mutation GCC,GGC A171G XP_016862503.1
XM_017007015.1 2617 Missense Mutation GCC,GGC A171G XP_016862504.1
Gene
LOC100129516
Gene Name
uncharacterized LOC100129516
There are no transcripts associated with this gene.

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