Product Details

SNP ID

rs149261165

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:206738494 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCAATTTGATCTGTTAGGATTCCA[A/C]GGTTTTGCCTTCAAATTCTGTAAAA

Phenotype

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

MDH1B PubMed Links

Additional Information

For this assay, SNP(s) [rs2287632] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	1810	Missense Mutation	ATG,GTG	M516V	NP_001034934.1
NM_001282940.1	1810	Missense Mutation	ATG,GTG	M515V	NP_001269869.1
XM_005246315.4	1810	Missense Mutation	ATG,GTG	M418V	XP_005246372.1
XM_005246316.4	1810	Missense Mutation	ATG,GTG	M303V	XP_005246373.1
XM_011510628.2	1810	Missense Mutation	ATG,GTG	M358V	XP_011508930.1
XM_017003373.1	1810	Missense Mutation	ATG,GTG	M417V	XP_016858862.1
XM_017003374.1	1810	Missense Mutation	ATG,GTG	M357V	XP_016858863.1

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