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GAGGCGTCTGAGGAGGGCTTCATCC[A/G]GGACCTGGAGCGGGAGAGGTACGTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
ARPC4-TTLL3 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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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 |
ARPC4-TTLL3 - ARPC4-TTLL3 readthrough | ||||||
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There are no transcripts associated with this gene. |
RPUSD3 - RNA pseudouridylate synthase domain containing 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142547.1 | 731 | Missense Mutation | CCG,CTG | P,L 275 | NP_001136019.1 | |
NM_173659.3 | 731 | Missense Mutation | CCG,CTG | P,L 290 | NP_775930.2 | |
XM_011533627.2 | 731 | Silent Mutation | CCC,CCT | P,P 243 | XP_011531929.1 |
TTLL3 - tubulin tyrosine ligase like 3 | ||||||
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There are no transcripts associated with this gene. |