Product Details

SNP ID
rs118186470
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:111649939 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACAGAATAGACCGATTATACCTAC[C/T]TTCTTTCCACAGACTGCTTTTCTTT
Phenotype
MIM: 604986
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
BRAP PubMed Links

Gene Details

Gene
BRAP
Gene Name
BRCA1 associated protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006768.4 1410 Missense Mutation AAG,AGG K472R NP_006759.3
XM_005253944.4 1410 Missense Mutation AAG,AGG K513R XP_005254001.1
XM_011538789.2 1410 Missense Mutation AAG,AGG K185R XP_011537091.1
XM_017019992.1 1410 Missense Mutation AAG,AGG K418R XP_016875481.1
XM_017019993.1 1410 Missense Mutation AAG,AGG K323R XP_016875482.1
XM_017019994.1 1410 Missense Mutation AAG,AGG K323R XP_016875483.1
XM_017019995.1 1410 Missense Mutation AAG,AGG K323R XP_016875484.1

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