Product Details

SNP ID

rs200690733

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:45795913 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTCCTCCTCCTCCTCGCCCTCCT[C/T]CTCCTCCTCTGTGGCTCCCAGGGCT

Phenotype

MIM: 609857 MIM: 607548

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

DMWD PubMed Links

Additional Information

For this assay, SNP(s) [rs557359374,rs61730714] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

DMWD

Gene Name

dystrophia myotonica, WD repeat containing

There are no transcripts associated with this gene.

Gene

RSPH6A

Gene Name

radial spoke head 6 homolog A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_030785.3	2281	Missense Mutation	AAG,GAG	K704E	NP_110412.1
XM_011527351.1	2281	Intron			XP_011525653.1

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