Product Details

SNP ID
rs199570759
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:42796478 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTATTTCCTTGGTAATACAGGCTA[A/G]TGATGCCAAAGGAGGAAAAACAAAT
Phenotype
MIM: 611448
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
BMS1 PubMed Links

Gene Details

Gene
BMS1
Gene Name
BMS1, ribosome biogenesis factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014753.3 1323 Missense Mutation ATG,GTG M412V NP_055568.3
XM_005271846.3 1323 Missense Mutation ATG,GTG M412V XP_005271903.1
XM_005271848.3 1323 Missense Mutation ATG,GTG M412V XP_005271905.1
XM_005271849.3 1323 Missense Mutation ATG,GTG M412V XP_005271906.1
XM_011540402.2 1323 Missense Mutation ATG,GTG M412V XP_011538704.1
XM_011540403.2 1323 Missense Mutation ATG,GTG M1V XP_011538705.1

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