Product Details

SNP ID
rs62000371
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:71458855 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAAAAGAAGAATTGAGAAAAGAGAA[C/G]GTAAGGGAGGAGAATCAGGATTTTG
Phenotype
MIM: 607012
Polymorphism
C/G, 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_018429.2 731 Missense Mutation AAC,AAG N163K NP_060899.2
XM_011543511.2 731 Missense Mutation AAC,AAG N163K XP_011541813.1
XM_011543512.2 731 Missense Mutation AAC,AAG N163K XP_011541814.1
XM_017009630.1 731 Missense Mutation AAC,AAG N163K XP_016865119.1
XM_017009631.1 731 Missense Mutation AAC,AAG N163K XP_016865120.1
XM_017009632.1 731 Missense Mutation AAC,AAG N163K XP_016865121.1
XM_017009633.1 731 Missense Mutation AAC,AAG N163K XP_016865122.1
XM_017009634.1 731 Missense Mutation AAC,AAG N163K XP_016865123.1

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