Product Details

SNP ID
rs180714348
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:206741062 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAACCCCACTGACTTACCATCTGAC[A/T]TAGCTAGATTTTTTTCTTCATCAGG
Phenotype
Polymorphism
A/T, Transversion 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 1715 Missense Mutation AAG,ATG K484M NP_001034934.1
NM_001282940.1 1715 Missense Mutation AAG,ATG K484M NP_001269869.1
XM_005246315.4 1715 Missense Mutation AAG,ATG K386M XP_005246372.1
XM_005246316.4 1715 Missense Mutation AAG,ATG K271M XP_005246373.1
XM_011510628.2 1715 Missense Mutation AAG,ATG K326M XP_011508930.1
XM_017003373.1 1715 Missense Mutation AAG,ATG K386M XP_016858862.1
XM_017003374.1 1715 Missense Mutation AAG,ATG K326M XP_016858863.1

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