Product Details

SNP ID

rs202241708

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:78998117 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTTTCCACCTTTTTTCTGAAGCC[A/G]GTTTCTGGTTGGTTCGGTCAATACC

Phenotype

MIM: 605849

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DMGDH PubMed Links

Gene Details

Gene

DMGDH

Gene Name

dimethylglycine dehydrogenase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_013391.3	2620	Missense Mutation	CGG,TGG	R856W	NP_037523.2
XM_006714597.2	2620	Intron			XP_006714660.1
XM_011543354.2	2620	Intron			XP_011541656.1
XM_011543355.2	2620	Intron			XP_011541657.1

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