Product Details

SNP ID

rs200880248

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:45784251 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCGATATCCATGGCTTCACACCA[C/T]TGTGCCACTCGGGGAGTTGCCTGGT

Phenotype

MIM: 605377 MIM: 609857

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DMPK PubMed Links

Gene Details

Gene

DMPK

Gene Name

dystrophia myotonica protein kinase

There are no transcripts associated with this gene.

Gene

DMWD

Gene Name

dystrophia myotonica, WD repeat containing

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004943.1	2063	Missense Mutation	ATG,GTG	M673V	NP_004934.1

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