Product Details

SNP ID
rs200045829
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:61867944 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCTCATACAATGGAGGAAATGCTC[A/G]ACAAAAAGAGACCAAACTTGGCAGA
Phenotype
MIM: 605882 MIM: 611346
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
BRIP1 PubMed Links

Gene Details

Gene
BRIP1
Gene Name
BRCA1 interacting protein C-terminal helicase 1
There are no transcripts associated with this gene.

Gene
INTS2
Gene Name
integrator complex subunit 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020748.2 3417 Nonsense Mutation CGA,TGA R1112* NP_065799.1
XM_006721987.3 3417 Nonsense Mutation CGA,TGA R1104* XP_006722050.1
XM_011525058.2 3417 Nonsense Mutation CGA,TGA R1104* XP_011523360.1

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