Product Details

SNP ID

rs145529811

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:45796060 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGGCAGGGCCGGGTTGAAGCTCT[C/T]GGGGCTGTACTTGTGACCCCAGCCG

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	2134	Missense Mutation	AAG,GAG	K655E	NP_110412.1
XM_011527351.1	2134	UTR 3			XP_011525653.1

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