Product Details

SNP ID
rs137950599
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:111644396 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACGTCACGCAGCTGCTCCTGGATCT[C/T]GGTGATCTGCAGATCTTTTTGGTCA
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 1577 Missense Mutation AAG,GAG K528E NP_006759.3
XM_005253944.4 1577 Missense Mutation AAG,GAG K569E XP_005254001.1
XM_011538789.2 1577 Missense Mutation AAG,GAG K241E XP_011537091.1
XM_017019992.1 1577 Missense Mutation AAG,GAG K474E XP_016875481.1
XM_017019993.1 1577 Missense Mutation AAG,GAG K379E XP_016875482.1
XM_017019994.1 1577 Missense Mutation AAG,GAG K379E XP_016875483.1
XM_017019995.1 1577 Missense Mutation AAG,GAG K379E XP_016875484.1

View Full Product Details