Product Details

SNP ID
rs202005786
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:137870700 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACACTTCATCCAGTCCCAAAACCCA[C/T]GTGGCTCCAGATTGCAGCCTCCTGG
Phenotype
MIM: 604103
Polymorphism
C/T, Transition 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_001135940.1 358 Intron NP_001129412.1
NM_001300911.1 358 Intron NP_001287840.1
NM_006790.2 358 Missense Mutation CGT,TGT R17C NP_006781.1
XM_017010060.1 358 Intron XP_016865549.1
XM_017010061.1 358 UTR 5 XP_016865550.1
XM_017010062.1 358 Intron XP_016865551.1

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