Product Details

SNP ID

rs186719823

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:45795880 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTAGAGGGTGGGCCTCAGTCATCTG[C/T]CTCCTCGCCCTCCTCCTCCTCCTCG

Phenotype

MIM: 609857 MIM: 607548

Polymorphism

C/T, Transition 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	2314	Missense Mutation	ACA,GCA	T715A	NP_110412.1
XM_011527351.1	2314	Intron			XP_011525653.1

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