Product Details

SNP ID

rs200386484

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:45786197 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCAGAACTGCGTGTCCTGGCCCGC[C/T]GAGCCAAAGCGGTAAGTAATGGAGC

Phenotype

MIM: 605377 MIM: 609857 MIM: 607548

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	1345	Silent Mutation			NP_004934.1

Gene

RSPH6A

Gene Name

radial spoke head 6 homolog A

There are no transcripts associated with this gene.

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