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CAGGGGCCCGACGCGCTCCACCTGG[A/G]CGCCGCCATCTTACAAGGAAGGGCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616587 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
FAM118B 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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FAM118B - family with sequence similarity 118 member B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_024556.3 | 216 | Intron | NP_078832.1 | |||
XM_005271665.3 | 216 | UTR 5 | XP_005271722.1 | |||
XM_011542977.2 | 216 | Intron | XP_011541279.1 | |||
XM_011542978.2 | 216 | UTR 5 | XP_011541280.1 | |||
XM_017018285.1 | 216 | Intron | XP_016873774.1 | |||
XM_017018286.1 | 216 | UTR 5 | XP_016873775.1 |
RPUSD4 - RNA pseudouridylate synthase domain containing 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001144827.1 | 216 | Missense Mutation | CCC,TCC | P,S 4 | NP_001138299.1 | |
NM_032795.2 | 216 | Missense Mutation | CCC,TCC | P,S 4 | NP_116184.2 | |
XM_011543039.2 | 216 | UTR 5 | XP_011541341.1 |