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CCCCAGGGCAGGCAGGATCAGCTGC[C/T]GGGCGTGCAGGTGAAGGGGGATGTA
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 |
---|---|---|
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 |
FAM118B - family with sequence similarity 118 member B | ||||||
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There are no transcripts associated with this gene. |
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 | 1025 | Missense Mutation | CAG,CGG | Q,R 294 | NP_001138299.1 | |
NM_032795.2 | 1025 | Missense Mutation | CAG,CGG | Q,R 325 | NP_116184.2 | |
XM_011543039.2 | 1025 | Missense Mutation | CAG,CGG | Q,R 132 | XP_011541341.1 |