Product Details

SNP ID
rs566829817
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:52410856 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCGGCCCGGCCCTGCACTGGCCGCC[C/T]GGCAGGCGCGACATGAGCCTGGTCT
Phenotype
MIM: 603089
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_004656.3 299 Intron NP_004647.1
XM_011534149.2 299 Intron XP_011532451.1
XM_011534150.2 299 Intron XP_011532452.1
XM_011534151.2 299 Intron XP_011532453.1
XM_011534152.1 299 Intron XP_011532454.1
XM_017007303.1 299 Intron XP_016862792.1
Gene
PHF7
Gene Name
PHD finger protein 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278221.2 299 UTR 5 NP_001265150.1
NM_001321126.1 299 UTR 5 NP_001308055.1
NM_001321127.1 299 UTR 5 NP_001308056.1
NM_016483.6 299 UTR 5 NP_057567.3
XM_011533826.2 299 UTR 5 XP_011532128.1

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