Product Details

SNP ID
rs190685109
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:71461911 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAGACTTCATATATTATCTACCAG[A/C]TAATAATCCAATGACGTAAGTAAAA
Phenotype
MIM: 607012
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
BDP1 PubMed Links

Gene Details

Gene
BDP1
Gene Name
B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018429.2 826 Missense Mutation GAT,GCT D195A NP_060899.2
XM_011543511.2 826 Missense Mutation GAT,GCT D195A XP_011541813.1
XM_011543512.2 826 Missense Mutation GAT,GCT D195A XP_011541814.1
XM_017009630.1 826 Missense Mutation GAT,GCT D195A XP_016865119.1
XM_017009631.1 826 Missense Mutation GAT,GCT D195A XP_016865120.1
XM_017009632.1 826 Missense Mutation GAT,GCT D195A XP_016865121.1
XM_017009633.1 826 Missense Mutation GAT,GCT D195A XP_016865122.1
XM_017009634.1 826 Missense Mutation GAT,GCT D195A XP_016865123.1

View Full Product Details