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TGTGGGACGTGAGGAAAAGGTCCCT[C/T]GGGCTGGAGGACCCGTCCCGGCTGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 610494 MIM: 614737 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DCAF6 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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DCAF6 - DDB1 and CUL4 associated factor 6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001017977.2 | 351 | Silent Mutation | CTC,CTT | L,L 19 | NP_001017977.1 | |
NM_001198956.1 | 351 | Silent Mutation | CTC,CTT | L,L 19 | NP_001185885.1 | |
NM_001198957.1 | 351 | Silent Mutation | CTC,CTT | L,L 19 | NP_001185886.1 | |
NM_018442.3 | 351 | Silent Mutation | CTC,CTT | L,L 19 | NP_060912.2 | |
XM_005245331.4 | 351 | Silent Mutation | CTC,CTT | L,L 19 | XP_005245388.1 | |
XM_005245332.4 | 351 | Silent Mutation | CTC,CTT | L,L 19 | XP_005245389.1 | |
XM_005245333.4 | 351 | Silent Mutation | CTC,CTT | L,L 19 | XP_005245390.1 | |
XM_017001779.1 | 351 | Intron | XP_016857268.1 | |||
XM_017001780.1 | 351 | Intron | XP_016857269.1 | |||
XM_017001781.1 | 351 | Intron | XP_016857270.1 |
MPC2 - mitochondrial pyruvate carrier 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001143674.3 | 351 | UTR 5 | NP_001137146.1 | |||
NM_015415.3 | 351 | Intron | NP_056230.1 | |||
XM_006711266.3 | 351 | Intron | XP_006711329.1 |