Product Details

SNP ID

rs2287632

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:206738497 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AATTTGATCTGTTAGGATTCCACGG[C/T]TTTGCCTTCAAATTCTGTAAAAGGA

Phenotype

Polymorphism

C/T, 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	1807	Missense Mutation	ACC,GCC	T515A	NP_001034934.1
NM_001282940.1	1807	Missense Mutation	ACC,GCC	T514A	NP_001269869.1
XM_005246315.4	1807	Missense Mutation	ACC,GCC	T417A	XP_005246372.1
XM_005246316.4	1807	Missense Mutation	ACC,GCC	T302A	XP_005246373.1
XM_011510628.2	1807	Missense Mutation	ACC,GCC	T357A	XP_011508930.1
XM_017003373.1	1807	Missense Mutation	ACC,GCC	T416A	XP_016858862.1
XM_017003374.1	1807	Missense Mutation	ACC,GCC	T356A	XP_016858863.1

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