Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TACTGAGGGGGTATCTCCAGCTCCT[C/T]CTCCTCAGCCTCTTTCTGGTGCTTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
RRP12 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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RRP12 - ribosomal RNA processing 12 homolog | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145114.1 | 3749 | Missense Mutation | AAG,GAG | K,E 1143 | NP_001138586.1 | |
NM_001284337.1 | 3749 | Missense Mutation | AAG,GAG | K,E 1104 | NP_001271266.1 | |
NM_015179.3 | 3749 | Missense Mutation | AAG,GAG | K,E 1204 | NP_055994.2 | |
XM_011539555.1 | 3749 | Missense Mutation | AAG,GAG | K,E 1176 | XP_011537857.1 | |
XM_011539556.2 | 3749 | Intron | XP_011537858.1 |