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TCCAATTTGGTTTTAAAAAGCAATC[C/T]GTGACCTGGCAGAGCGAGTGAGAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601934 MIM: 602578 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DUS1L 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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DUS1L - dihydrouridine synthase 1 like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_022156.4 | 1450 | Missense Mutation | AGA,GGA | R,G 430 | NP_071439.3 | |
XM_005256393.2 | 1450 | Missense Mutation | CAG,CGG | Q,R 551 | XP_005256450.1 | |
XM_005256394.2 | 1450 | Missense Mutation | CAG,CGG | Q,R 427 | XP_005256451.1 | |
XM_006722288.2 | 1450 | Missense Mutation | CAG,CGG | Q,R 534 | XP_006722351.1 | |
XM_006722289.2 | 1450 | Missense Mutation | AGA,GGA | R,G 413 | XP_006722352.1 |
RFNG - RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | ||||||
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There are no transcripts associated with this gene. |