Product Details

SNP ID
rs111943191
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:61683730 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTTTATCTTCTTCACTTACTAGAG[A/G]CAATTCAATGTCTGGATCCAGGGCT
Phenotype
MIM: 605882
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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032043.2 4113 Missense Mutation CCT,TCT P1106S NP_114432.2
XM_011525332.2 4113 Missense Mutation CCT,TCT P1126S XP_011523634.1
XM_011525333.2 4113 Missense Mutation CCT,TCT P1126S XP_011523635.1
XM_011525334.2 4113 Missense Mutation CCT,TCT P1126S XP_011523636.1
XM_011525335.2 4113 Missense Mutation CCT,TCT P1106S XP_011523637.1
XM_011525336.2 4113 Missense Mutation CCT,TCT P1086S XP_011523638.1
XM_011525337.2 4113 Missense Mutation CCT,TCT P1059S XP_011523639.1
XM_011525338.2 4113 Missense Mutation CCT,TCT P965S XP_011523640.1
XM_011525339.2 4113 Intron XP_011523641.1
XM_011525340.2 4113 Intron XP_011523642.1
XM_011525341.2 4113 Intron XP_011523643.1
XM_017025200.1 4113 Missense Mutation CCT,TCT P945S XP_016880689.1
XM_017025201.1 4113 Missense Mutation CCT,TCT P945S XP_016880690.1
XM_017025202.1 4113 Missense Mutation CCT,TCT P488S XP_016880691.1
XM_017025203.1 4113 Missense Mutation CCT,TCT P488S XP_016880692.1

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