Product Details

SNP ID
rs114060947
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:45765938 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCACCGGGAGGCCTCCCTCAGGCA[C/T]GGAGATGGCCGTCTCTGGCTTCAGT
Phenotype
MIM: 605377 MIM: 600963
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
BHMG1 PubMed Links

Gene Details

Gene
BHMG1
Gene Name
basic helix-loop-helix and HMG-box containing 1
There are no transcripts associated with this gene.

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

Gene
SIX5
Gene Name
SIX homeobox 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_175875.4 2178 Missense Mutation ATG,GTG M595V NP_787071.2

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