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ATTGTTCGCTTTAGTGCCGGCGCCA[C/T]GGGGTCGGAGCTGATCGGGCGCCTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607213 MIM: 601501 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ORC6 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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ORC6 - origin recognition complex subunit 6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_014321.3 | 52 | Missense Mutation | ACG,ATG | T,M 1 | NP_055136.1 | |
XM_011522978.2 | 52 | Missense Mutation | ACG,ATG | T,M 1 | XP_011521280.1 |
VPS35 - VPS35 retromer complex component | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_018206.5 | 52 | Intron | NP_060676.2 | |||
XM_005256045.3 | 52 | Intron | XP_005256102.1 | |||
XM_011523227.2 | 52 | Intron | XP_011521529.1 |