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CGAATAGTTGGAGGCTCTTTCAAGA[C/T]GATGATTTCTGCAGAAGGATCTAGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610748 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
LOC390251 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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LOC390251 - SH3 domain containing GRB2 like 1 pseudogene | ||||||
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There are no transcripts associated with this gene. |
USP28 - ubiquitin specific peptidase 28 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001301029.1 | 3378 | Missense Mutation | ATC,GTC | I,V 885 | NP_001287958.1 | |
NM_020886.3 | 3378 | Missense Mutation | ATC,GTC | I,V 1042 | NP_065937.1 | |
XM_005271630.2 | 3378 | Missense Mutation | ATC,GTC | I,V 1105 | XP_005271687.1 | |
XM_005271631.2 | 3378 | Missense Mutation | ATC,GTC | I,V 1104 | XP_005271688.1 | |
XM_005271632.2 | 3378 | Missense Mutation | ATC,GTC | I,V 1102 | XP_005271689.1 | |
XM_005271633.4 | 3378 | Missense Mutation | ATC,GTC | I,V 1083 | XP_005271690.1 | |
XM_005271636.2 | 3378 | Missense Mutation | ATC,GTC | I,V 1045 | XP_005271693.1 | |
XM_005271637.2 | 3378 | Missense Mutation | ATC,GTC | I,V 1043 | XP_005271694.1 | |
XM_005271638.2 | 3378 | Missense Mutation | ATC,GTC | I,V 1011 | XP_005271695.1 | |
XM_005271639.2 | 3378 | Missense Mutation | ATC,GTC | I,V 1010 | XP_005271696.1 | |
XM_011542936.2 | 3378 | Missense Mutation | ATC,GTC | I,V 1079 | XP_011541238.1 | |
XM_011542938.1 | 3378 | Missense Mutation | ATC,GTC | I,V 980 | XP_011541240.1 | |
XM_011542941.1 | 3378 | Missense Mutation | ATC,GTC | I,V 752 | XP_011541243.1 | |
XM_011542942.1 | 3378 | Missense Mutation | ATC,GTC | I,V 661 | XP_011541244.1 | |
XM_017018056.1 | 3378 | Missense Mutation | ATC,GTC | I,V 1078 | XP_016873545.1 | |
XM_017018057.1 | 3378 | Missense Mutation | ATC,GTC | I,V 1039 | XP_016873546.1 | |
XM_017018058.1 | 3378 | Missense Mutation | ATC,GTC | I,V 1016 | XP_016873547.1 | |
XM_017018059.1 | 3378 | Missense Mutation | ATC,GTC | I,V 984 | XP_016873548.1 | |
XM_017018060.1 | 3378 | Missense Mutation | ATC,GTC | I,V 979 | XP_016873549.1 | |
XM_017018061.1 | 3378 | Missense Mutation | ATC,GTC | I,V 918 | XP_016873550.1 | |
XM_017018062.1 | 3378 | Missense Mutation | ATC,GTC | I,V 917 | XP_016873551.1 | |
XM_017018063.1 | 3378 | Missense Mutation | ATC,GTC | I,V 817 | XP_016873552.1 | |
XM_017018064.1 | 3378 | Missense Mutation | ATC,GTC | I,V 755 | XP_016873553.1 | |
XM_017018065.1 | 3378 | Missense Mutation | ATC,GTC | I,V 690 | XP_016873554.1 | |
XM_017018066.1 | 3378 | Missense Mutation | ATC,GTC | I,V 690 | XP_016873555.1 | |
XM_017018067.1 | 3378 | Missense Mutation | ATC,GTC | I,V 690 | XP_016873556.1 | |
XM_017018068.1 | 3378 | Missense Mutation | ATC,GTC | I,V 658 | XP_016873557.1 | |
XM_017018069.1 | 3378 | Intron | XP_016873558.1 |