C_347776361_10

SNP ID:

rs777813431

Gene

DMPK DMWD RSPH6A

Gene Name

dystrophia myotonica protein kinase

dystrophia myotonica, WD repeat containing

radial spoke head 6 homolog A

Set Membership:

-

Chromosome Location:

Chr.19: 45786336 - 45786336 on Build GRCh38

Polymorphism:

G/A, Transition substitution

Context Sequence [VIC/FAM]:

CTCCCCATCAGCACCGGCTGCTGTC[G/A]CCGCCTCCTCTGCCCTTGTGGTGTA

Assay Details

Species:	Human
dbSNP Submissions:	NA
Phenotype:	MIM: 605377 MIM: 609857 MIM: 607548
Literature Links:	DMPK PubMed Links
Allele Nomenclature:
Minor Allele Frequency:

1000Genome	Applied Biosystems^®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

DMPK - dystrophia myotonica protein kinase
There are no transcripts associated with this gene.

DMWD - dystrophia myotonica, WD repeat containing
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_004943.1	1206	Missense Mutation	GCG,GTG	A,V 387	NP_004934.1

RSPH6A - radial spoke head 6 homolog A
There are no transcripts associated with this gene.

More Information

Gene Ontology Categories:

Function(s)

molecular_function