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TCTGGCACCTCTGCCCAAGCATGGC[A/T]GCTGTGCTCATGGCCTGGGCCATTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603812 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DCAF5 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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DCAF5 - DDB1 and CUL4 associated factor 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001284206.1 | 2467 | Missense Mutation | AGC,TGC | S,C 750 | NP_001271135.1 | |
NM_001284207.1 | 2467 | Missense Mutation | AGC,TGC | S,C 669 | NP_001271136.1 | |
NM_001284208.1 | 2467 | Intron | NP_001271137.1 | |||
NM_003861.2 | 2467 | Missense Mutation | AGC,TGC | S,C 751 | NP_003852.1 | |
XM_006720297.2 | 2467 | Missense Mutation | AGC,TGC | S,C 786 | XP_006720360.1 | |
XM_006720298.2 | 2467 | Missense Mutation | AGC,TGC | S,C 785 | XP_006720361.1 | |
XM_006720299.3 | 2467 | Missense Mutation | AGC,TGC | S,C 704 | XP_006720362.1 | |
XM_006720300.2 | 2467 | Missense Mutation | AGC,TGC | S,C 703 | XP_006720363.1 | |
XM_011537278.1 | 2467 | Missense Mutation | AGC,TGC | S,C 704 | XP_011535580.1 | |
XM_011537279.2 | 2467 | Missense Mutation | AGC,TGC | S,C 704 | XP_011535581.1 | |
XM_011537280.2 | 2467 | Missense Mutation | AGC,TGC | S,C 569 | XP_011535582.1 | |
XM_017021733.1 | 2467 | Missense Mutation | AGC,TGC | S,C 704 | XP_016877222.1 | |
XM_017021734.1 | 2467 | Missense Mutation | AGC,TGC | S,C 669 | XP_016877223.1 | |
XM_017021735.1 | 2467 | Missense Mutation | AGC,TGC | S,C 669 | XP_016877224.1 | |
XM_017021736.1 | 2467 | Missense Mutation | AGC,TGC | S,C 668 | XP_016877225.1 | |
XM_017021737.1 | 2467 | Missense Mutation | AGC,TGC | S,C 534 | XP_016877226.1 | |
XM_017021738.1 | 2467 | Missense Mutation | AGC,TGC | S,C 472 | XP_016877227.1 | |
XM_017021739.1 | 2467 | Missense Mutation | AGC,TGC | S,C 472 | XP_016877228.1 |