Product Details

SNP ID
rs79044333
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:45771035 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGCCCCACCAGCGGGCACTGGCCC[C/A]CAGCCACGGCCGGGGGGCCATCTAG
Phenotype
MIM: 605377 MIM: 600963
Polymorphism
C/A, Transversion 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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001081560.2 2247 Missense Mutation GGG,GTG G553V NP_001075029.1
NM_001081562.2 2247 Missense Mutation GGG,TGG G552W NP_001075031.1
NM_001081563.2 2247 Missense Mutation GGG,GTG G568V NP_001075032.1
NM_001288764.1 2247 Missense Mutation GGG,GTG G584V NP_001275693.1
NM_001288765.1 2247 Missense Mutation GGG,TGG G468W NP_001275694.1
NM_001288766.1 2247 Intron NP_001275695.1
NM_004409.4 2247 Missense Mutation GGG,GTG G558V NP_004400.4
Gene
SIX5
Gene Name
SIX homeobox 5
There are no transcripts associated with this gene.

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