Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 161650 MIM: 608952 | ||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
NEB PubMed Links | ||||||||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | ||||||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | ||||||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | ||||||
SAS
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Chinese - Not Available | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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EUR
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AMR
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NEB - nebulin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001164507.1 | 25639 | Silent Mutation | ACC,ACT | T,T 8514 | NP_001157979.1 | |
NM_001164508.1 | 25639 | Silent Mutation | ACC,ACT | T,T 8514 | NP_001157980.1 | |
NM_001271208.1 | 25639 | Silent Mutation | ACC,ACT | T,T 8549 | NP_001258137.1 | |
NM_004543.4 | 25639 | Silent Mutation | ACC,ACT | T,T 6658 | NP_004534.2 | |
XM_005246590.2 | 25639 | Silent Mutation | ACC,ACT | T,T 8483 | XP_005246647.1 | |
XM_005246591.2 | 25639 | Silent Mutation | ACC,ACT | T,T 8483 | XP_005246648.1 | |
XM_005246592.2 | 25639 | Silent Mutation | ACC,ACT | T,T 8483 | XP_005246649.1 | |
XM_005246593.2 | 25639 | Silent Mutation | ACC,ACT | T,T 8483 | XP_005246650.1 | |
XM_005246594.2 | 25639 | Silent Mutation | ACC,ACT | T,T 8483 | XP_005246651.1 | |
XM_005246596.2 | 25639 | Silent Mutation | ACC,ACT | T,T 8452 | XP_005246653.1 | |
XM_005246597.2 | 25639 | Silent Mutation | ACC,ACT | T,T 8452 | XP_005246654.1 | |
XM_005246598.2 | 25639 | Silent Mutation | ACC,ACT | T,T 8452 | XP_005246655.1 | |
XM_005246599.2 | 25639 | Silent Mutation | ACC,ACT | T,T 8421 | XP_005246656.1 | |
XM_005246600.2 | 25639 | Silent Mutation | ACC,ACT | T,T 8421 | XP_005246657.1 | |
XM_005246601.2 | 25639 | Silent Mutation | ACC,ACT | T,T 8390 | XP_005246658.1 | |
XM_005246602.2 | 25639 | Silent Mutation | ACC,ACT | T,T 8390 | XP_005246659.1 | |
XM_005246603.2 | 25639 | Silent Mutation | ACC,ACT | T,T 8359 | XP_005246660.1 | |
XM_005246604.2 | 25639 | Silent Mutation | ACC,ACT | T,T 8359 | XP_005246661.1 | |
XM_005246606.2 | 25639 | Silent Mutation | ACC,ACT | T,T 8359 | XP_005246663.1 | |
XM_005246608.2 | 25639 | Silent Mutation | ACC,ACT | T,T 8328 | XP_005246665.1 | |
XM_005246610.2 | 25639 | Silent Mutation | ACC,ACT | T,T 8297 | XP_005246667.1 | |
XM_005246611.2 | 25639 | Silent Mutation | ACC,ACT | T,T 8297 | XP_005246668.1 | |
XM_005246612.2 | 25639 | Silent Mutation | ACC,ACT | T,T 8271 | XP_005246669.1 | |
XM_005246613.2 | 25639 | Silent Mutation | ACC,ACT | T,T 8271 | XP_005246670.1 | |
XM_005246615.2 | 25639 | Silent Mutation | ACC,ACT | T,T 8266 | XP_005246672.1 | |
XM_005246616.1 | 25639 | Intron | XP_005246673.1 | |||
XM_005246617.2 | 25639 | Silent Mutation | ACC,ACT | T,T 7542 | XP_005246674.1 | |
XM_006712541.2 | 25639 | Silent Mutation | ACC,ACT | T,T 8359 | XP_006712604.1 | |
XM_006712542.2 | 25639 | Silent Mutation | ACC,ACT | T,T 8359 | XP_006712605.1 | |
XM_011511225.2 | 25639 | Silent Mutation | ACC,ACT | T,T 8266 | XP_011509527.1 | |
XM_011511226.2 | 25639 | Silent Mutation | ACC,ACT | T,T 7785 | XP_011509528.1 | |
XM_011511227.2 | 25639 | Silent Mutation | ACC,ACT | T,T 7056 | XP_011509529.1 | |
XM_017004177.1 | 25639 | Silent Mutation | ACC,ACT | T,T 8477 | XP_016859666.1 | |
XM_017004178.1 | 25639 | Silent Mutation | ACC,ACT | T,T 8452 | XP_016859667.1 | |
XM_017004179.1 | 25639 | Silent Mutation | ACC,ACT | T,T 8359 | XP_016859668.1 | |
XM_017004180.1 | 25639 | Silent Mutation | ACC,ACT | T,T 8359 | XP_016859669.1 | |
XM_017004181.1 | 25639 | Silent Mutation | ACC,ACT | T,T 8328 | XP_016859670.1 | |
XM_017004182.1 | 25639 | Silent Mutation | ACC,ACT | T,T 8297 | XP_016859671.1 | |
XM_017004183.1 | 25639 | Silent Mutation | ACC,ACT | T,T 8266 | XP_016859672.1 | |
XM_017004184.1 | 25639 | Silent Mutation | ACC,ACT | T,T 8266 | XP_016859673.1 | |
XM_017004185.1 | 25639 | Silent Mutation | ACC,ACT | T,T 8173 | XP_016859674.1 |
RIF1 - replication timing regulatory factor 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001177663.1 | 25639 | Intron | NP_001171134.1 | |||
NM_001177664.1 | 25639 | Intron | NP_001171135.1 | |||
NM_001177665.1 | 25639 | Intron | NP_001171136.1 | |||
NM_018151.4 | 25639 | Intron | NP_060621.3 | |||
XM_005246665.3 | 25639 | Intron | XP_005246722.1 | |||
XM_011511395.2 | 25639 | Intron | XP_011509697.1 | |||
XM_017004422.1 | 25639 | Intron | XP_016859911.1 | |||
XM_017004423.1 | 25639 | Intron | XP_016859912.1 | |||
XM_017004424.1 | 25639 | Intron | XP_016859913.1 | |||
XM_017004425.1 | 25639 | Intron | XP_016859914.1 |
Set Membership: |
HapMap |