Product Details

SNP ID
rs140583185
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:112549369 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATTGCAATGATAAGACCAAAATGG[A/C]AAACCAGAGGGCCTGGTTATACTCA
Phenotype
MIM: 602000
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
LOC105373562 PubMed Links

Gene Details

Gene
LOC105373562
Gene Name
uncharacterized LOC105373562
There are no transcripts associated with this gene.

Gene
POLR1B
Gene Name
RNA polymerase I subunit B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001137604.2 825 Missense Mutation AAA,CAA K143Q NP_001131076.1
NM_001282772.1 825 Missense Mutation AAA,CAA K237Q NP_001269701.1
NM_001282774.1 825 Missense Mutation AAA,CAA K199Q NP_001269703.1
NM_001282776.1 825 Intron NP_001269705.1
NM_001282777.1 825 Missense Mutation AAA,CAA K60Q NP_001269706.1
NM_001282779.1 825 Missense Mutation AAA,CAA K60Q NP_001269708.1
NM_019014.5 825 Missense Mutation AAA,CAA K199Q NP_061887.2

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