Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCGGCACTGCAAGCTAAGAAAACCC[A/G]TGTGTCAGACCCCATCAGCACCTCG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606847 | ||||||||||||||||||||
Literature Links: |
TCOF1 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 |
TCOF1 - treacle ribosome biogenesis factor 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000356.3 | 275 | Missense Mutation | CAT,CGT | H,R 77 | NP_000347.2 | |
NM_001008657.2 | 275 | Missense Mutation | CAT,CGT | H,R 77 | NP_001008657.1 | |
NM_001135243.1 | 275 | Missense Mutation | CAT,CGT | H,R 77 | NP_001128715.1 | |
NM_001135244.1 | 275 | Missense Mutation | CAT,CGT | H,R 77 | NP_001128716.1 | |
NM_001135245.1 | 275 | Missense Mutation | CAT,CGT | H,R 77 | NP_001128717.1 | |
NM_001195141.1 | 275 | Missense Mutation | CAT,CGT | H,R 77 | NP_001182070.1 | |
XM_005268502.3 | 275 | Missense Mutation | CAT,CGT | H,R 77 | XP_005268559.1 | |
XM_005268503.3 | 275 | Missense Mutation | CAT,CGT | H,R 77 | XP_005268560.1 | |
XM_005268504.3 | 275 | Missense Mutation | CAT,CGT | H,R 77 | XP_005268561.1 | |
XM_005268505.3 | 275 | Missense Mutation | CAT,CGT | H,R 77 | XP_005268562.1 | |
XM_005268506.3 | 275 | Missense Mutation | CAT,CGT | H,R 77 | XP_005268563.1 | |
XM_005268507.3 | 275 | Missense Mutation | CAT,CGT | H,R 77 | XP_005268564.1 | |
XM_005268508.3 | 275 | Missense Mutation | CAT,CGT | H,R 77 | XP_005268565.1 | |
XM_005268509.3 | 275 | Missense Mutation | CAT,CGT | H,R 77 | XP_005268566.1 | |
XM_011537678.2 | 275 | Missense Mutation | CAT,CGT | H,R 77 | XP_011535980.1 | |
XM_017009792.1 | 275 | Missense Mutation | CAT,CGT | H,R 77 | XP_016865281.1 | |
XM_017009793.1 | 275 | Missense Mutation | CAT,CGT | H,R 77 | XP_016865282.1 | |
XM_017009794.1 | 275 | Missense Mutation | CAT,CGT | H,R 77 | XP_016865283.1 | |
XM_017009795.1 | 275 | Missense Mutation | CAT,CGT | H,R 77 | XP_016865284.1 |