Product Details

SNP ID
rs200439810
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:47667821 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACATCTGGATCCAGATTTTTCTGAA[A/G]CAACTTAGGATACAAAGATGGTTCA
Phenotype
MIM: 611477
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
RPAP3 PubMed Links

Gene Details

Gene
RPAP3
Gene Name
RNA polymerase II associated protein 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001146075.1 1758 Missense Mutation CTT,TTT L548F NP_001139547.1
NM_001146076.1 1758 Missense Mutation CTT,TTT L423F NP_001139548.1
NM_024604.2 1758 Missense Mutation CTT,TTT L582F NP_078880.2
XM_011538741.2 1758 Missense Mutation CTT,TTT L259F XP_011537043.1

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