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CACCGGACTTCGATCCGCCCTGGGT[A/G]GAGAAGGCTAACAGAACCAGAGGCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611665 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DDX54 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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DDX54 - DEAD-box helicase 54 | ||||||
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There are no transcripts associated with this gene. |
IQCD - IQ motif containing D | ||||||
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There are no transcripts associated with this gene. |
RITA1 - RBPJ interacting and tubulin associated 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286215.1 | 835 | Silent Mutation | GTA,GTG | V,V 81 | NP_001273144.1 | |
NM_032848.2 | 835 | Silent Mutation | GTA,GTG | V,V 57 | NP_116237.1 | |
XM_005253972.2 | 835 | Silent Mutation | GTA,GTG | V,V 57 | XP_005254029.1 |