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CAGAGGCAAATGCTCTAGAATTGCT[G/T]TCAAAATTGAATGATACCATTAAGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608952 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
RIF1 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 | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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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 | 344 | Silent Mutation | CTG,CTT | L,L 101 | NP_001171134.1 | |
NM_001177664.1 | 344 | Silent Mutation | CTG,CTT | L,L 101 | NP_001171135.1 | |
NM_001177665.1 | 344 | Silent Mutation | CTG,CTT | L,L 101 | NP_001171136.1 | |
NM_018151.4 | 344 | Silent Mutation | CTG,CTT | L,L 101 | NP_060621.3 | |
XM_005246665.3 | 344 | Silent Mutation | CTG,CTT | L,L 101 | XP_005246722.1 | |
XM_011511395.2 | 344 | Silent Mutation | CTG,CTT | L,L 101 | XP_011509697.1 | |
XM_017004422.1 | 344 | Silent Mutation | CTG,CTT | L,L 101 | XP_016859911.1 | |
XM_017004423.1 | 344 | Silent Mutation | CTG,CTT | L,L 101 | XP_016859912.1 | |
XM_017004424.1 | 344 | Silent Mutation | CTG,CTT | L,L 65 | XP_016859913.1 | |
XM_017004425.1 | 344 | Silent Mutation | CTG,CTT | L,L 101 | XP_016859914.1 |