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TGTCATACCTGTTAAGAACTTTTCC[A/G]TAAGTTCACTGTGGGTCATTTTCAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300485 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BCOR 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
|
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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BCOR - BCL6 corepressor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001123383.1 | 5148 | Missense Mutation | ACG,ATG | T,M 1541 | NP_001116855.1 | |
NM_001123384.1 | 5148 | Missense Mutation | ACG,ATG | T,M 1523 | NP_001116856.1 | |
NM_001123385.1 | 5148 | Missense Mutation | ACG,ATG | T,M 1575 | NP_001116857.1 | |
NM_017745.5 | 5148 | Missense Mutation | ACG,ATG | T,M 1541 | NP_060215.4 | |
XM_005272616.1 | 5148 | Missense Mutation | ACG,ATG | T,M 1575 | XP_005272673.1 | |
XM_005272618.3 | 5148 | Missense Mutation | ACG,ATG | T,M 1575 | XP_005272675.1 | |
XM_005272619.3 | 5148 | Missense Mutation | ACG,ATG | T,M 1557 | XP_005272676.1 | |
XM_005272620.3 | 5148 | Missense Mutation | ACG,ATG | T,M 1523 | XP_005272677.1 | |
XM_006724536.3 | 5148 | Missense Mutation | ACG,ATG | T,M 1575 | XP_006724599.1 | |
XM_011543929.2 | 5148 | Missense Mutation | ACG,ATG | T,M 1575 | XP_011542231.1 | |
XM_011543930.1 | 5148 | Missense Mutation | ACG,ATG | T,M 1575 | XP_011542232.1 | |
XM_011543931.2 | 5148 | Missense Mutation | ACG,ATG | T,M 1575 | XP_011542233.1 | |
XM_017029615.1 | 5148 | Missense Mutation | ACG,ATG | T,M 1541 | XP_016885104.1 | |
XM_017029616.1 | 5148 | Missense Mutation | ACG,ATG | T,M 1575 | XP_016885105.1 |