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AGAGACTTCATATATTATCTACCAG[A/C]TAATAATCCAATGACGTAAGTAAAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607012 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BDP1 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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BDP1 - B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_018429.2 | 826 | Missense Mutation | GAT,GCT | D,A 195 | NP_060899.2 | |
XM_011543511.2 | 826 | Missense Mutation | GAT,GCT | D,A 195 | XP_011541813.1 | |
XM_011543512.2 | 826 | Missense Mutation | GAT,GCT | D,A 195 | XP_011541814.1 | |
XM_017009630.1 | 826 | Missense Mutation | GAT,GCT | D,A 195 | XP_016865119.1 | |
XM_017009631.1 | 826 | Missense Mutation | GAT,GCT | D,A 195 | XP_016865120.1 | |
XM_017009632.1 | 826 | Missense Mutation | GAT,GCT | D,A 195 | XP_016865121.1 | |
XM_017009633.1 | 826 | Missense Mutation | GAT,GCT | D,A 195 | XP_016865122.1 | |
XM_017009634.1 | 826 | Missense Mutation | GAT,GCT | D,A 195 | XP_016865123.1 |