Product Details

SNP ID
rs200781166
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:47663525 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAAATCAACCACCGTATCTTTTCT[C/T]GAGTTCTTCGACAGAACTATCCTTC
Phenotype
MIM: 611477
Polymorphism
C/T, 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 1992 Missense Mutation AAG,GAG K626E NP_001139547.1
NM_001146076.1 1992 Missense Mutation AAG,GAG K501E NP_001139548.1
NM_024604.2 1992 Missense Mutation AAG,GAG K660E NP_078880.2
XM_011538741.2 1992 Missense Mutation AAG,GAG K337E XP_011537043.1

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