Product Details

SNP ID
rs199760778
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:137870796 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATCATCCAGCCCCGCCAGTGTACA[C/G]AGCAAAGATTTTCTGCCTCCTCAAC
Phenotype
MIM: 604103
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
MYOT PubMed Links

Gene Details

Gene
MYOT
Gene Name
myotilin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135940.1 454 Intron NP_001129412.1
NM_001300911.1 454 Intron NP_001287840.1
NM_006790.2 454 Missense Mutation CAG,GAG Q49E NP_006781.1
XM_017010060.1 454 Intron XP_016865549.1
XM_017010061.1 454 UTR 5 XP_016865550.1
XM_017010062.1 454 Intron XP_016865551.1

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