Product Details

SNP ID
rs186069238
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:42796514 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAGGAAAAACAAATGGACTTGAAC[A/G]CTGGTCGAATGCGTCGGAAAGCCAT
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 1359 Missense Mutation ACT,GCT T424A NP_055568.3
XM_005271846.3 1359 Missense Mutation ACT,GCT T424A XP_005271903.1
XM_005271848.3 1359 Missense Mutation ACT,GCT T424A XP_005271905.1
XM_005271849.3 1359 Missense Mutation ACT,GCT T424A XP_005271906.1
XM_011540402.2 1359 Missense Mutation ACT,GCT T424A XP_011538704.1
XM_011540403.2 1359 Missense Mutation ACT,GCT T13A XP_011538705.1

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