Product Details

SNP ID
rs191947442
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:52414581 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGACAATATCAGCGTGCATTATTT[C/T]TGTCTTGTGAGTATGAGGCCTCCTT
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
There are no transcripts associated with this gene.

Gene
PHF7
Gene Name
PHD finger protein 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278221.2 939 Silent Mutation TTC,TTT F60F NP_001265150.1
NM_001321126.1 939 Silent Mutation TTC,TTT F60F NP_001308055.1
NM_001321127.1 939 Silent Mutation TTC,TTT F60F NP_001308056.1
NM_016483.6 939 Silent Mutation TTC,TTT F60F NP_057567.3
XM_011533826.2 939 Silent Mutation TTC,TTT F60F XP_011532128.1

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