Product Details

SNP ID
rs117081954
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:10523372 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGACCTTTGACAGCCTCAGCATTA[C/T]GCTTTTGCTCACTCTCAACCTCTCC
Phenotype
MIM: 160730 MIM: 160740
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MYH1 PubMed Links

Gene Details

Gene
MYH1
Gene Name
myosin heavy chain 1
There are no transcripts associated with this gene.

Gene
MYH2
Gene Name
myosin heavy chain 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001100112.1 5641 Missense Mutation CAT,CGT H1838R NP_001093582.1
NM_017534.5 5641 Missense Mutation CAT,CGT H1838R NP_060004.3
Gene
MYHAS
Gene Name
myosin heavy chain gene cluster antisense RNA
There are no transcripts associated with this gene.

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