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NEBCCAGCTTAGGATCATCTCTCATCGT[C/T]GGGACACCAACATAATGACCTTTTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
NEB 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 |
| NEB - nebulin | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001164507.1 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | NP_001157979.1 | |
| NM_001164508.1 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | NP_001157980.1 | |
| NM_001271208.1 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | NP_001258137.1 | |
| NM_004543.4 | 18088 | Silent Mutation | CCA,CCG | P,P 4265 | NP_004534.2 | |
| XM_005246590.2 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | XP_005246647.1 | |
| XM_005246591.2 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | XP_005246648.1 | |
| XM_005246592.2 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | XP_005246649.1 | |
| XM_005246593.2 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | XP_005246650.1 | |
| XM_005246594.2 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | XP_005246651.1 | |
| XM_005246596.2 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | XP_005246653.1 | |
| XM_005246597.2 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | XP_005246654.1 | |
| XM_005246598.2 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | XP_005246655.1 | |
| XM_005246599.2 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | XP_005246656.1 | |
| XM_005246600.2 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | XP_005246657.1 | |
| XM_005246601.2 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | XP_005246658.1 | |
| XM_005246602.2 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | XP_005246659.1 | |
| XM_005246603.2 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | XP_005246660.1 | |
| XM_005246604.2 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | XP_005246661.1 | |
| XM_005246606.2 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | XP_005246663.1 | |
| XM_005246608.2 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | XP_005246665.1 | |
| XM_005246610.2 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | XP_005246667.1 | |
| XM_005246611.2 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | XP_005246668.1 | |
| XM_005246612.2 | 18088 | Silent Mutation | CCA,CCG | P,P 5723 | XP_005246669.1 | |
| XM_005246613.2 | 18088 | Silent Mutation | CCA,CCG | P,P 5723 | XP_005246670.1 | |
| XM_005246615.2 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | XP_005246672.1 | |
| XM_005246616.1 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | XP_005246673.1 | |
| XM_005246617.2 | 18088 | Silent Mutation | CCA,CCG | P,P 4994 | XP_005246674.1 | |
| XM_006712541.2 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | XP_006712604.1 | |
| XM_006712542.2 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | XP_006712605.1 | |
| XM_011511225.2 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | XP_011509527.1 | |
| XM_011511226.2 | 18088 | Silent Mutation | CCA,CCG | P,P 5237 | XP_011509528.1 | |
| XM_011511227.2 | 18088 | Silent Mutation | CCA,CCG | P,P 4508 | XP_011509529.1 | |
| XM_017004177.1 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | XP_016859666.1 | |
| XM_017004178.1 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | XP_016859667.1 | |
| XM_017004179.1 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | XP_016859668.1 | |
| XM_017004180.1 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | XP_016859669.1 | |
| XM_017004181.1 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | XP_016859670.1 | |
| XM_017004182.1 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | XP_016859671.1 | |
| XM_017004183.1 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | XP_016859672.1 | |
| XM_017004184.1 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | XP_016859673.1 | |
| XM_017004185.1 | 18088 | Silent Mutation | CCA,CCG | P,P 5966 | XP_016859674.1 | |