Product Details

SNP ID

rs191617125

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:45795924 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCTCGCCCTCCTCCTCCTCCTCT[C/G]TGGCTCCCAGGGCTTGTTCCTGGGC

Phenotype

MIM: 609857 MIM: 607548

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

DMWD PubMed Links

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	2270	Missense Mutation	ACA,AGA	T700R	NP_110412.1
XM_011527351.1	2270	Intron			XP_011525653.1

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