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GCAGTACTCTGACAGACTAGAATGC[G/T]GTGAAAATGAAGTAGAAAAGGTAAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607981 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NUB1 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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NUB1 - negative regulator of ubiquitin like proteins 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001243351.1 | 303 | Missense Mutation | GGT,TGT | G,C 76 | NP_001230280.1 | |
NM_016118.4 | 303 | Missense Mutation | GGT,TGT | G,C 76 | NP_057202.3 | |
XM_005250011.2 | 303 | Missense Mutation | GGT,TGT | G,C 52 | XP_005250068.1 | |
XM_017012304.1 | 303 | Missense Mutation | GGT,TGT | G,C 76 | XP_016867793.1 | |
XM_017012305.1 | 303 | Missense Mutation | GGT,TGT | G,C 76 | XP_016867794.1 | |
XM_017012306.1 | 303 | Missense Mutation | GGT,TGT | G,C 52 | XP_016867795.1 | |
XM_017012307.1 | 303 | Missense Mutation | GGT,TGT | G,C 76 | XP_016867796.1 | |
XM_017012308.1 | 303 | Missense Mutation | GGT,TGT | G,C 76 | XP_016867797.1 | |
XM_017012309.1 | 303 | Missense Mutation | GGT,TGT | G,C 52 | XP_016867798.1 | |
XM_017012310.1 | 303 | UTR 5 | XP_016867799.1 | |||
XM_017012311.1 | 303 | UTR 5 | XP_016867800.1 | |||
XM_017012312.1 | 303 | UTR 5 | XP_016867801.1 | |||
XM_017012313.1 | 303 | UTR 5 | XP_016867802.1 | |||
XM_017012314.1 | 303 | UTR 5 | XP_016867803.1 |