Product Details

SNP ID
rs189007116
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:42791751 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCTCACATGGCAAACTTCTCACC[C/T]TTATATCCTGGCAGACAGGTAAAAT
Phenotype
MIM: 611448
Polymorphism
C/T, 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_014753.3 850 Missense Mutation CCT,CTT P254L NP_055568.3
XM_005271846.3 850 Missense Mutation CCT,CTT P254L XP_005271903.1
XM_005271848.3 850 Missense Mutation CCT,CTT P254L XP_005271905.1
XM_005271849.3 850 Missense Mutation CCT,CTT P254L XP_005271906.1
XM_011540402.2 850 Missense Mutation CCT,CTT P254L XP_011538704.1
XM_011540403.2 850 Intron XP_011538705.1

View Full Product Details