Product Details

SNP ID
rs139683056
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:206746310 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCTGAATTAGATCACTTGTCATTC[A/G]GGTCATTATTTGTTCACTTATTTCA
Phenotype
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MDH1B PubMed Links

Gene Details

Gene
MDH1B
Gene Name
malate dehydrogenase 1B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001039845.2 1597 Nonsense Mutation CGA,TGA R445* NP_001034934.1
NM_001282940.1 1597 Nonsense Mutation CGA,TGA R445* NP_001269869.1
XM_005246315.4 1597 Nonsense Mutation CGA,TGA R347* XP_005246372.1
XM_005246316.4 1597 Nonsense Mutation CGA,TGA R232* XP_005246373.1
XM_011510628.2 1597 Nonsense Mutation CGA,TGA R287* XP_011508930.1
XM_017003373.1 1597 Nonsense Mutation CGA,TGA R347* XP_016858862.1
XM_017003374.1 1597 Nonsense Mutation CGA,TGA R287* XP_016858863.1

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