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TCTGCTGTCCGTGGCTTCCACGACC[A/T]CCTTCTCCACTGGGCTGCTGGACCC
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603089 MIM: 603332 | |||||||||||||||||||||||
Literature Links: |
BAP1 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 - Not Available | African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR - Not Available | |||||
AMR - Not Available |
BAP1 - BRCA1 associated protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004656.3 | 2028 | Missense Mutation | GAG,GTG | E,V 602 | NP_004647.1 | |
XM_011534149.2 | 2028 | Missense Mutation | GAG,GTG | E,V 602 | XP_011532451.1 | |
XM_011534150.2 | 2028 | Missense Mutation | GAG,GTG | E,V 602 | XP_011532452.1 | |
XM_011534151.2 | 2028 | Missense Mutation | GAG,GTG | E,V 584 | XP_011532453.1 | |
XM_011534152.1 | 2028 | Missense Mutation | GAG,GTG | E,V 602 | XP_011532454.1 | |
XM_017007303.1 | 2028 | Missense Mutation | GAG,GTG | E,V 584 | XP_016862792.1 |
DNAH1 - dynein axonemal heavy chain 1 | ||||||
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There are no transcripts associated with this gene. |
PHF7 - PHD finger protein 7 | ||||||
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There are no transcripts associated with this gene. |