Product Details

SNP ID

rs200244503

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:206767276 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCAATGTGGACAATTGCCAAAAGA[C/G]TGTCTGATGACCAGAAGCGCTTTGA

Phenotype

MIM: 612322

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

FASTKD2 PubMed Links

Gene Details

Gene

FASTKD2

Gene Name

FAST kinase domains 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001136193.1	1008	Missense Mutation	CTG,GTG	L195V	NP_001129665.1
NM_001136194.1	1008	Missense Mutation	CTG,GTG	L195V	NP_001129666.1
NM_014929.3	1008	Missense Mutation	CTG,GTG	L195V	NP_055744.2

Gene

MDH1B

Gene Name

malate dehydrogenase 1B

There are no transcripts associated with this gene.

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