Product Details

SNP ID
rs55832587
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:178527288 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAATGCTGATATCAGATGGAAGAGC[C/T]TCAATTTTAGGCGGAATTCCTTTAT
Phenotype
MIM: 188840
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
TTN PubMed Links

Gene Details

Gene
TTN
Gene Name
titin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001256850.1 106818 Silent Mutation GAA,GAG E34259E NP_001243779.1
NM_001267550.2 106818 Silent Mutation GAA,GAG E35900E NP_001254479.2
NM_003319.4 106818 Silent Mutation GAA,GAG E26835E NP_003310.4
NM_133378.4 106818 Silent Mutation GAA,GAG E33332E NP_596869.4
NM_133379.4 106818 Intron NP_596870.2
NM_133432.3 106818 Silent Mutation GAA,GAG E26960E NP_597676.3
NM_133437.4 106818 Silent Mutation GAA,GAG E27027E NP_597681.4
XM_017004819.1 106818 Silent Mutation GAA,GAG E35531E XP_016860308.1
XM_017004820.1 106818 Silent Mutation GAA,GAG E33997E XP_016860309.1
XM_017004821.1 106818 Silent Mutation GAA,GAG E33996E XP_016860310.1
XM_017004822.1 106818 Silent Mutation GAA,GAG E33010E XP_016860311.1
XM_017004823.1 106818 Silent Mutation GAA,GAG E26882E XP_016860312.1
Gene
TTN-AS1
Gene Name
TTN antisense RNA 1
There are no transcripts associated with this gene.

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