Product Details

SNP ID
rs145596198
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:42796530 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACTTGAACACTGGTCGAATGCGTC[A/G]GAAAGCCATTTTCGGAGATGAAGAT
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 1375 Missense Mutation CAG,CGG Q429R NP_055568.3
XM_005271846.3 1375 Missense Mutation CAG,CGG Q429R XP_005271903.1
XM_005271848.3 1375 Missense Mutation CAG,CGG Q429R XP_005271905.1
XM_005271849.3 1375 Missense Mutation CAG,CGG Q429R XP_005271906.1
XM_011540402.2 1375 Missense Mutation CAG,CGG Q429R XP_011538704.1
XM_011540403.2 1375 Missense Mutation CAG,CGG Q18R XP_011538705.1

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