Product Details

SNP ID
rs202071231
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:111644236 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTGCTGCGGCCCTTCCTGGAGGGC[A/C]ACTTCCCACTGCCCCCCGAAGAGGC
Phenotype
MIM: 604986
Polymorphism
A/C, Transversion 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 1737 Missense Mutation TGG,TTG W581L NP_006759.3
XM_005253944.4 1737 Missense Mutation TGG,TTG W622L XP_005254001.1
XM_011538789.2 1737 Missense Mutation TGG,TTG W294L XP_011537091.1
XM_017019992.1 1737 Missense Mutation TGG,TTG W527L XP_016875481.1
XM_017019993.1 1737 Missense Mutation TGG,TTG W432L XP_016875482.1
XM_017019994.1 1737 Missense Mutation TGG,TTG W432L XP_016875483.1
XM_017019995.1 1737 Missense Mutation TGG,TTG W432L XP_016875484.1

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