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TGTGGAGACCACCCGGCGCTACCGG[C/T]TCTCGGTGAGGTGATGGGGAATCAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613129 MIM: 602133 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CTC1 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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CTC1 - CTS telomere maintenance complex component 1 | ||||||
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There are no transcripts associated with this gene. |
PFAS - phosphoribosylformylglycinamidine synthase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_012393.2 | 520 | Missense Mutation | CTC,TTC | L,F 127 | NP_036525.1 | |
XM_006721546.2 | 520 | Missense Mutation | CTC,TTC | L,F 127 | XP_006721609.1 | |
XM_017024760.1 | 520 | UTR 5 | XP_016880249.1 |