C___7830138_10

SNP ID:

rs8109951

Gene

DMPK DMWD RSPH6A

Gene Name

dystrophia myotonica protein kinase

dystrophia myotonica, WD repeat containing

radial spoke head 6 homolog A

Set Membership:

> HapMap

Chromosome Location:

Chr.19: 45786245 - 45786245 on Build GRCh38

Polymorphism:

C/T, Transition substitution

Context Sequence [VIC/FAM]:

AGCCAGCCTTGGGCAGTGGAGAGAG[C/T]GGGGCGCCCCCGGCCGAGCCTGTGC

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 T (0.29) (0.71)	Caucasian - Not Available	CEPH (CEU) T (0.36) (0.64)
EAS T (0.29) (0.71)	African American - Not Available	YRI (Yoruba) T (0.29) (0.71)
SAS T (0.27) (0.73)	Chinese - Not Available	JPT (Japanese) T (0.16) (0.84)
AFR T (0.31) (0.69)	Japanese - Not Available	CHB (Han Chinese) T (0.21) (0.79)
EUR T (0.33) (0.67)
AMR T (0.23) (0.77)

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	1297	Silent Mutation	CCA,CCG	P,P 417	NP_004934.1

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

More Information

• Set Membership: HapMap

Gene Ontology Categories:

Function(s)

molecular_function