Product Details

SNP ID
rs12976565
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:55137137 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCTCCCCCATGTAGTCAATGTCCA[G/T]AGGCTTCTTACGCTCGGAGAGGATG
Phenotype
MIM: 191041
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
TNNT1 PubMed Links

Gene Details

Gene
TNNT1
Gene Name
troponin T1, slow skeletal type
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001126132.2 844 Missense Mutation ATG,CTG M193L NP_001119604.1
NM_001126133.2 844 Missense Mutation ATG,CTG M182L NP_001119605.1
NM_001291774.1 844 Missense Mutation ATG,CTG M182L NP_001278703.1
NM_003283.5 844 Missense Mutation ATG,CTG M193L NP_003274.3
XM_011527246.2 844 Missense Mutation ATG,CTG M189L XP_011525548.1
XM_017027186.1 844 Missense Mutation ATG,CTG M193L XP_016882675.1
XM_017027187.1 844 Missense Mutation ATG,CTG M189L XP_016882676.1

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