Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCGGGCCCCACCCACCGTTGCTGCC[C/T]ATCATCTGCAGGGCACTGACGCAGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604902 | ||||||||||||||||||||
Literature Links: |
BRF1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | 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 |
BRF1 - BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001242786.1 | 2639 | Missense Mutation | ATA,ATG | I,M 569 | NP_001229715.1 | |
NM_001242787.1 | 2639 | Missense Mutation | ATA,ATG | I,M 547 | NP_001229716.1 | |
NM_001242788.1 | 2639 | Missense Mutation | ATA,ATG | I,M 635 | NP_001229717.1 | |
NM_001242789.1 | 2639 | Missense Mutation | ATA,ATG | I,M 424 | NP_001229718.1 | |
NM_001242790.1 | 2639 | Intron | NP_001229719.1 | |||
NM_001519.3 | 2639 | Missense Mutation | ATA,ATG | I,M 662 | NP_001510.2 | |
NM_145685.2 | 2639 | Missense Mutation | ATA,ATG | I,M 458 | NP_663718.1 | |
XM_005267561.3 | 2639 | Missense Mutation | ATA,ATG | I,M 661 | XP_005267618.1 | |
XM_005267563.3 | 2639 | Missense Mutation | ATA,ATG | I,M 458 | XP_005267620.1 | |
XM_006720123.2 | 2639 | Missense Mutation | ATA,ATG | I,M 441 | XP_006720186.1 | |
XM_011536672.2 | 2639 | Intron | XP_011534974.1 | |||
XM_011536673.1 | 2639 | Missense Mutation | ATA,ATG | I,M 612 | XP_011534975.1 | |
XM_011536674.1 | 2639 | Missense Mutation | ATA,ATG | I,M 491 | XP_011534976.1 |