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Search Thermo Fisher Scientific
TACTTACCTTCAATAAAATGACAGA[G/T]TCAGGAATGACGCCAAGGGTGCCTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
4 submissions
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Phenotype: |
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Literature Links: |
USP48 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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USP48 - ubiquitin specific peptidase 48 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001032730.1 | 3789 | Intron | NP_001027902.1 | |||
XM_005246009.2 | 3789 | Missense Mutation | GAA,GAC | E,D 945 | XP_005246066.1 | |
XM_006710951.2 | 3789 | Missense Mutation | GAA,GAC | E,D 995 | XP_006711014.2 | |
XM_006710955.3 | 3789 | Missense Mutation | GAA,GAC | E,D 931 | XP_006711018.1 | |
XM_011542262.2 | 3789 | Missense Mutation | GAA,GAC | E,D 996 | XP_011540564.1 | |
XM_011542263.2 | 3789 | Missense Mutation | GAA,GAC | E,D 996 | XP_011540565.1 | |
XM_011542264.1 | 3789 | Missense Mutation | GAA,GAC | E,D 930 | XP_011540566.1 | |
XM_011542265.2 | 3789 | Missense Mutation | GAA,GAC | E,D 870 | XP_011540567.1 | |
XM_011542267.2 | 3789 | Missense Mutation | GAA,GAC | E,D 583 | XP_011540569.1 | |
XM_011542268.2 | 3789 | Missense Mutation | GAA,GAC | E,D 583 | XP_011540570.1 | |
XM_017002495.1 | 3789 | Missense Mutation | GAA,GAC | E,D 930 | XP_016857984.1 | |
XM_017002496.1 | 3789 | Intron | XP_016857985.1 | |||
XM_017002497.1 | 3789 | Missense Mutation | GAA,GAC | E,D 583 | XP_016857986.1 |