Product Details

SNP ID
rs144881611
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:52402644 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGATAAAGGTGCAGATGAACTCAT[C/T]GTAGTTGTGGGTCCTTCTCTGGTCA
Phenotype
MIM: 603089 MIM: 603332
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
BAP1 PubMed Links

Gene Details

Gene
BAP1
Gene Name
BRCA1 associated protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004656.3 2306 Missense Mutation AAT,GAT N672D NP_004647.1
XM_011534149.2 2306 Missense Mutation AAT,GAT N695D XP_011532451.1
XM_011534150.2 2306 Missense Mutation AAT,GAT N680D XP_011532452.1
XM_011534151.2 2306 Missense Mutation AAT,GAT N677D XP_011532453.1
XM_011534152.1 2306 Missense Mutation AAT,GAT N657D XP_011532454.1
XM_017007303.1 2306 Missense Mutation AAT,GAT N654D XP_016862792.1
Gene
DNAH1
Gene Name
dynein axonemal heavy chain 1
There are no transcripts associated with this gene.

Gene
PHF7
Gene Name
PHD finger protein 7
There are no transcripts associated with this gene.

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