Product Details

SNP ID
rs185682314
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:71461840 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAAACAATGGAAAAACAAATATGC[C/T]ATAAATGAAAGTCAGAGGCCACCAG
Phenotype
MIM: 607012
Polymorphism
C/T, Transition 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_018429.2 755 Silent Mutation GCC,GCT A171A NP_060899.2
XM_011543511.2 755 Silent Mutation GCC,GCT A171A XP_011541813.1
XM_011543512.2 755 Silent Mutation GCC,GCT A171A XP_011541814.1
XM_017009630.1 755 Silent Mutation GCC,GCT A171A XP_016865119.1
XM_017009631.1 755 Silent Mutation GCC,GCT A171A XP_016865120.1
XM_017009632.1 755 Silent Mutation GCC,GCT A171A XP_016865121.1
XM_017009633.1 755 Silent Mutation GCC,GCT A171A XP_016865122.1
XM_017009634.1 755 Silent Mutation GCC,GCT A171A XP_016865123.1

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