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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