Product Details
- SNP ID
-
rs201298767
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:178527455 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TAATTTTATTGCTCACCTCTTATGC[C/T]TGCTTTAAGCATTTTACTAGTTGAG
- 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 |
106789 |
Missense Mutation |
AGC,GGC |
S34250G |
NP_001243779.1 |
NM_001267550.2 |
106789 |
Missense Mutation |
AGC,GGC |
S35891G |
NP_001254479.2 |
NM_003319.4 |
106789 |
Missense Mutation |
AGC,GGC |
S26826G |
NP_003310.4 |
NM_133378.4 |
106789 |
Missense Mutation |
AGC,GGC |
S33323G |
NP_596869.4 |
NM_133379.4 |
106789 |
Intron |
|
|
NP_596870.2 |
NM_133432.3 |
106789 |
Missense Mutation |
AGC,GGC |
S26951G |
NP_597676.3 |
NM_133437.4 |
106789 |
Missense Mutation |
AGC,GGC |
S27018G |
NP_597681.4 |
XM_017004819.1 |
106789 |
Missense Mutation |
AGC,GGC |
S35522G |
XP_016860308.1 |
XM_017004820.1 |
106789 |
Missense Mutation |
AGC,GGC |
S33988G |
XP_016860309.1 |
XM_017004821.1 |
106789 |
Missense Mutation |
AGC,GGC |
S33987G |
XP_016860310.1 |
XM_017004822.1 |
106789 |
Missense Mutation |
AGC,GGC |
S33001G |
XP_016860311.1 |
XM_017004823.1 |
106789 |
Missense Mutation |
AGC,GGC |
S26873G |
XP_016860312.1 |
- Gene
- TTN-AS1
- Gene Name
- TTN antisense RNA 1
There are no transcripts associated with this gene.
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