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CTGCTTCACAGAGGCTGCACCACCA[C/G]TCATGAGGATCTCAGACCAGAGCTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605230 MIM: 609610 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
TP53BP1 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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TP53BP1 - tumor protein p53 binding protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001141979.1 | 5658 | Missense Mutation | ACT,AGT | T,S 1897 | NP_001135451.1 | |
NM_001141980.1 | 5658 | Missense Mutation | ACT,AGT | T,S 1899 | NP_001135452.1 | |
NM_005657.2 | 5658 | Missense Mutation | ACT,AGT | T,S 1894 | NP_005648.1 | |
XM_011521985.1 | 5658 | Missense Mutation | ACT,AGT | T,S 1849 | XP_011520287.1 | |
XM_011521986.2 | 5658 | Intron | XP_011520288.1 | |||
XM_017022533.1 | 5658 | Missense Mutation | ACT,AGT | T,S 939 | XP_016878022.1 |
TUBGCP4 - tubulin gamma complex associated protein 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286414.2 | 5658 | Intron | NP_001273343.1 | |||
NM_014444.4 | 5658 | Intron | NP_055259.2 | |||
XM_011521454.2 | 5658 | UTR 3 | XP_011519756.1 | |||
XM_011521455.2 | 5658 | UTR 3 | XP_011519757.1 | |||
XM_017022078.1 | 5658 | UTR 3 | XP_016877567.1 |