Product Details

SNP ID

rs143223304

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:206766746 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTGTTTCAGTGGAGAGCAAAATGA[A/G]TAACAAAGCGGGCTCCTTTTTCTGG

Phenotype

MIM: 612322

Polymorphism

A/G, Transition 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	478	Missense Mutation	AAT,AGT	N18S	NP_001129665.1
NM_001136194.1	478	Missense Mutation	AAT,AGT	N18S	NP_001129666.1
NM_014929.3	478	Missense Mutation	AAT,AGT	N18S	NP_055744.2

Gene

MDH1B

Gene Name

malate dehydrogenase 1B

There are no transcripts associated with this gene.

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