Product Details

SNP ID
rs202049411
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:105211164 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCAGGGCACTGACGCAGGGCTCCC[C/T]GTCCTCCTCGTCAGGCTCCTCCTCG
Phenotype
MIM: 604902
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
BRF1 PubMed Links

Gene Details

Gene
BRF1
Gene Name
BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001242786.1 2607 Missense Mutation NP_001229715.1
NM_001242787.1 2607 Missense Mutation NP_001229716.1
NM_001242788.1 2607 Missense Mutation NP_001229717.1
NM_001242789.1 2607 Missense Mutation NP_001229718.1
NM_001242790.1 2607 Intron NP_001229719.1
NM_001519.3 2607 Missense Mutation NP_001510.2
NM_145685.2 2607 Missense Mutation NP_663718.1
XM_005267561.3 2607 Missense Mutation XP_005267618.1
XM_005267563.3 2607 Missense Mutation XP_005267620.1
XM_006720123.2 2607 Missense Mutation XP_006720186.1
XM_011536672.2 2607 Intron XP_011534974.1
XM_011536673.1 2607 Missense Mutation XP_011534975.1
XM_011536674.1 2607 Missense Mutation XP_011534976.1

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