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GGAAGATACCGTTGTCTGTTGGGTA[A/G]CAACTGAAGATGATCGTTGTTGTGG
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
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
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 | 25449 | Missense Mutation | GCT,GTT | A,V 8451 | NP_001157979.1 | |
NM_001164508.1 | 25449 | Missense Mutation | GCT,GTT | A,V 8451 | NP_001157980.1 | |
NM_001271208.1 | 25449 | Missense Mutation | GCT,GTT | A,V 8486 | NP_001258137.1 | |
NM_004543.4 | 25449 | Missense Mutation | GCT,GTT | A,V 6595 | NP_004534.2 | |
XM_005246590.2 | 25449 | Missense Mutation | GCT,GTT | A,V 8420 | XP_005246647.1 | |
XM_005246591.2 | 25449 | Missense Mutation | GCT,GTT | A,V 8420 | XP_005246648.1 | |
XM_005246592.2 | 25449 | Missense Mutation | GCT,GTT | A,V 8420 | XP_005246649.1 | |
XM_005246593.2 | 25449 | Missense Mutation | GCT,GTT | A,V 8420 | XP_005246650.1 | |
XM_005246594.2 | 25449 | Missense Mutation | GCT,GTT | A,V 8420 | XP_005246651.1 | |
XM_005246596.2 | 25449 | Missense Mutation | GCT,GTT | A,V 8389 | XP_005246653.1 | |
XM_005246597.2 | 25449 | Missense Mutation | GCT,GTT | A,V 8389 | XP_005246654.1 | |
XM_005246598.2 | 25449 | Missense Mutation | GCT,GTT | A,V 8389 | XP_005246655.1 | |
XM_005246599.2 | 25449 | Missense Mutation | GCT,GTT | A,V 8358 | XP_005246656.1 | |
XM_005246600.2 | 25449 | Missense Mutation | GCT,GTT | A,V 8358 | XP_005246657.1 | |
XM_005246601.2 | 25449 | Missense Mutation | GCT,GTT | A,V 8327 | XP_005246658.1 | |
XM_005246602.2 | 25449 | Missense Mutation | GCT,GTT | A,V 8327 | XP_005246659.1 | |
XM_005246603.2 | 25449 | Missense Mutation | GCT,GTT | A,V 8296 | XP_005246660.1 | |
XM_005246604.2 | 25449 | Missense Mutation | GCT,GTT | A,V 8296 | XP_005246661.1 | |
XM_005246606.2 | 25449 | Missense Mutation | GCT,GTT | A,V 8296 | XP_005246663.1 | |
XM_005246608.2 | 25449 | Missense Mutation | GCT,GTT | A,V 8265 | XP_005246665.1 | |
XM_005246610.2 | 25449 | Missense Mutation | GCT,GTT | A,V 8234 | XP_005246667.1 | |
XM_005246611.2 | 25449 | Missense Mutation | GCT,GTT | A,V 8234 | XP_005246668.1 | |
XM_005246612.2 | 25449 | Missense Mutation | GCT,GTT | A,V 8208 | XP_005246669.1 | |
XM_005246613.2 | 25449 | Missense Mutation | GCT,GTT | A,V 8208 | XP_005246670.1 | |
XM_005246615.2 | 25449 | Missense Mutation | GCT,GTT | A,V 8203 | XP_005246672.1 | |
XM_005246616.1 | 25449 | Intron | XP_005246673.1 | |||
XM_005246617.2 | 25449 | Missense Mutation | GCT,GTT | A,V 7479 | XP_005246674.1 | |
XM_006712541.2 | 25449 | Missense Mutation | GCT,GTT | A,V 8296 | XP_006712604.1 | |
XM_006712542.2 | 25449 | Missense Mutation | GCT,GTT | A,V 8296 | XP_006712605.1 | |
XM_011511225.2 | 25449 | Missense Mutation | GCT,GTT | A,V 8203 | XP_011509527.1 | |
XM_011511226.2 | 25449 | Missense Mutation | GCT,GTT | A,V 7722 | XP_011509528.1 | |
XM_011511227.2 | 25449 | Missense Mutation | GCT,GTT | A,V 6993 | XP_011509529.1 | |
XM_017004177.1 | 25449 | Missense Mutation | GCT,GTT | A,V 8414 | XP_016859666.1 | |
XM_017004178.1 | 25449 | Missense Mutation | GCT,GTT | A,V 8389 | XP_016859667.1 | |
XM_017004179.1 | 25449 | Missense Mutation | GCT,GTT | A,V 8296 | XP_016859668.1 | |
XM_017004180.1 | 25449 | Missense Mutation | GCT,GTT | A,V 8296 | XP_016859669.1 | |
XM_017004181.1 | 25449 | Missense Mutation | GCT,GTT | A,V 8265 | XP_016859670.1 | |
XM_017004182.1 | 25449 | Missense Mutation | GCT,GTT | A,V 8234 | XP_016859671.1 | |
XM_017004183.1 | 25449 | Missense Mutation | GCT,GTT | A,V 8203 | XP_016859672.1 | |
XM_017004184.1 | 25449 | Missense Mutation | GCT,GTT | A,V 8203 | XP_016859673.1 | |
XM_017004185.1 | 25449 | Missense Mutation | GCT,GTT | A,V 8110 | XP_016859674.1 |
RIF1 - replication timing regulatory factor 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001177663.1 | 25449 | Intron | NP_001171134.1 | |||
NM_001177664.1 | 25449 | Intron | NP_001171135.1 | |||
NM_001177665.1 | 25449 | Intron | NP_001171136.1 | |||
NM_018151.4 | 25449 | Intron | NP_060621.3 | |||
XM_005246665.3 | 25449 | Intron | XP_005246722.1 | |||
XM_011511395.2 | 25449 | Intron | XP_011509697.1 | |||
XM_017004422.1 | 25449 | Intron | XP_016859911.1 | |||
XM_017004423.1 | 25449 | Intron | XP_016859912.1 | |||
XM_017004424.1 | 25449 | Intron | XP_016859913.1 | |||
XM_017004425.1 | 25449 | Intron | XP_016859914.1 |