Product Details

SNP ID
rs139517492
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:45783302 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGAGCTCTTCTTTCCAGGGTGGA[C/T]GGTTCTCCAGAGTGGAAGTCGGGGC
Phenotype
MIM: 605377 MIM: 609857
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DMPK PubMed Links

Gene Details

Gene
DMPK
Gene Name
dystrophia myotonica protein kinase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001081560.2 3012 Intron NP_001075029.1
NM_001081562.2 3012 Intron NP_001075031.1
NM_001081563.2 3012 Intron NP_001075032.1
NM_001288764.1 3012 Intron NP_001275693.1
NM_001288765.1 3012 Intron NP_001275694.1
NM_001288766.1 3012 Intron NP_001275695.1
NM_004409.4 3012 Intron NP_004400.4
Gene
DMWD
Gene Name
dystrophia myotonica, WD repeat containing
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004943.1 3012 UTR 3 NP_004934.1

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