Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CATCAGTTTCCTCCCAGACCCTTGC[A/G]CTCTTCCTGAACAACAAAAGAAGCG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611448 | ||||||||||||||||||||
Literature Links: |
BMS1 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 |
BMS1 - BMS1, ribosome biogenesis factor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_014753.3 | 1041 | Missense Mutation | ACT,GCT | T,A 318 | NP_055568.3 | |
XM_005271846.3 | 1041 | Missense Mutation | ACT,GCT | T,A 318 | XP_005271903.1 | |
XM_005271848.3 | 1041 | Missense Mutation | ACT,GCT | T,A 318 | XP_005271905.1 | |
XM_005271849.3 | 1041 | Missense Mutation | ACT,GCT | T,A 318 | XP_005271906.1 | |
XM_011540402.2 | 1041 | Missense Mutation | ACT,GCT | T,A 318 | XP_011538704.1 | |
XM_011540403.2 | 1041 | Intron | XP_011538705.1 |