Product Details
- SNP ID
-
rs147293964
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:178527222 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ACCATGTTACTTCTGGGGTAGGCTC[A/G]CCCGTGAAAGCACAGGCTACTGTTA
- Phenotype
-
MIM: 188840
- Polymorphism
- A/G, 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 |
106884 |
Silent Mutation |
GGC,GGT |
G34281G |
NP_001243779.1 |
| NM_001267550.2 |
106884 |
Silent Mutation |
GGC,GGT |
G35922G |
NP_001254479.2 |
| NM_003319.4 |
106884 |
Silent Mutation |
GGC,GGT |
G26857G |
NP_003310.4 |
| NM_133378.4 |
106884 |
Silent Mutation |
GGC,GGT |
G33354G |
NP_596869.4 |
| NM_133379.4 |
106884 |
Intron |
|
|
NP_596870.2 |
| NM_133432.3 |
106884 |
Silent Mutation |
GGC,GGT |
G26982G |
NP_597676.3 |
| NM_133437.4 |
106884 |
Silent Mutation |
GGC,GGT |
G27049G |
NP_597681.4 |
| XM_017004819.1 |
106884 |
Silent Mutation |
GGC,GGT |
G35553G |
XP_016860308.1 |
| XM_017004820.1 |
106884 |
Silent Mutation |
GGC,GGT |
G34019G |
XP_016860309.1 |
| XM_017004821.1 |
106884 |
Silent Mutation |
GGC,GGT |
G34018G |
XP_016860310.1 |
| XM_017004822.1 |
106884 |
Silent Mutation |
GGC,GGT |
G33032G |
XP_016860311.1 |
| XM_017004823.1 |
106884 |
Silent Mutation |
GGC,GGT |
G26904G |
XP_016860312.1 |
- Gene
- TTN-AS1
- Gene Name
- TTN antisense RNA 1
There are no transcripts associated with this gene.
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