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- SNP ID:
- rs371847228
- Gene
-
TTN - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.2: 178727728 - 178727728 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
TTCCAAGCCAATGAAACATTTAGGA[C/T]CTGAGACAAGTTCCACATCATCCTT
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 188840
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Literature Links: |
TTN PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
| TTN - titin | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001256850.1 | 19127 | Missense Mutation | GAT,GGT | D,G 6300 | NP_001243779.1 | |
| NM_001267550.2 | 19127 | Missense Mutation | GAT,GGT | D,G 6617 | NP_001254479.2 | |
| NM_003319.4 | 19127 | Intron | NP_003310.4 | |||
| NM_133378.4 | 19127 | Missense Mutation | GAT,GGT | D,G 5373 | NP_596869.4 | |
| NM_133379.4 | 19127 | Intron | NP_596870.2 | |||
| NM_133432.3 | 19127 | Intron | NP_597676.3 | |||
| NM_133437.4 | 19127 | Intron | NP_597681.4 | |||
| XM_017004819.1 | 19127 | Missense Mutation | GAT,GGT | D,G 6301 | XP_016860308.1 | |
| XM_017004820.1 | 19127 | Missense Mutation | GAT,GGT | D,G 5374 | XP_016860309.1 | |
| XM_017004821.1 | 19127 | Missense Mutation | GAT,GGT | D,G 5373 | XP_016860310.1 | |
| XM_017004822.1 | 19127 | Missense Mutation | GAT,GGT | D,G 6301 | XP_016860311.1 | |
| XM_017004823.1 | 19127 | Intron | XP_016860312.1 | |||
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