Product Details

SNP ID
rs113572618
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:9750372 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCCTGTGGGCCTCCATCCCGTGCC[C/G]TCGCTCTGAGCTGCGCCTGGACCTG
Phenotype
MIM: 602410 MIM: 604998 MIM: 601982
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
BRPF1 PubMed Links

Gene Details

Gene
BRPF1
Gene Name
bromodomain and PHD finger containing 1
There are no transcripts associated with this gene.

Gene
CAMK1
Gene Name
calcium/calmodulin dependent protein kinase I
There are no transcripts associated with this gene.

Gene
OGG1
Gene Name
8-oxoguanine DNA glycosylase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002542.5 424 Missense Mutation CCT,CGT P29R NP_002533.1
NM_016819.3 424 Missense Mutation CCT,CGT P29R NP_058212.1
NM_016820.3 424 Missense Mutation CCT,CGT P29R NP_058213.1
NM_016821.2 424 Missense Mutation CCT,CGT P29R NP_058214.1
NM_016826.2 424 Missense Mutation CCT,CGT P29R NP_058434.1
NM_016827.2 424 Missense Mutation CCT,CGT P29R NP_058436.1
NM_016828.2 424 Missense Mutation CCT,CGT P29R NP_058437.1
NM_016829.2 424 Missense Mutation CCT,CGT P29R NP_058438.1
XM_011533760.1 424 Missense Mutation CCT,CGT P29R XP_011532062.1
XM_017006493.1 424 Missense Mutation CCT,CGT P29R XP_016861982.1
XM_017006494.1 424 Missense Mutation CCT,CGT P29R XP_016861983.1
XM_017006495.1 424 Missense Mutation CCT,CGT P29R XP_016861984.1
XM_017006496.1 424 Missense Mutation CCT,CGT P29R XP_016861985.1
XM_017006497.1 424 Missense Mutation CCT,CGT P29R XP_016861986.1
XM_017006498.1 424 Missense Mutation CCT,CGT P29R XP_016861987.1
XM_017006499.1 424 Missense Mutation CCT,CGT P29R XP_016861988.1

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