Product Details
- SNP ID
-
rs139275410
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.14:105211242 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ACGGGCCCGCTCTCCACCAGCACCG[C/T]CTGGGGCCTGGCAGGCTCAGCTCCG
- Phenotype
-
MIM: 604902
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
BRF1
PubMed Links
Gene Details
- Gene
- BRF1
- Gene Name
- BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001242786.1 |
2529 |
Missense Mutation |
ACG,GCG |
T533A |
NP_001229715.1 |
NM_001242787.1 |
2529 |
Missense Mutation |
ACG,GCG |
T511A |
NP_001229716.1 |
NM_001242788.1 |
2529 |
Missense Mutation |
ACG,GCG |
T599A |
NP_001229717.1 |
NM_001242789.1 |
2529 |
Missense Mutation |
ACG,GCG |
T388A |
NP_001229718.1 |
NM_001242790.1 |
2529 |
Intron |
|
|
NP_001229719.1 |
NM_001519.3 |
2529 |
Missense Mutation |
ACG,GCG |
T626A |
NP_001510.2 |
NM_145685.2 |
2529 |
Missense Mutation |
ACG,GCG |
T422A |
NP_663718.1 |
XM_005267561.3 |
2529 |
Missense Mutation |
ACG,GCG |
T625A |
XP_005267618.1 |
XM_005267563.3 |
2529 |
Missense Mutation |
ACG,GCG |
T422A |
XP_005267620.1 |
XM_006720123.2 |
2529 |
Missense Mutation |
ACG,GCG |
T405A |
XP_006720186.1 |
XM_011536672.2 |
2529 |
Intron |
|
|
XP_011534974.1 |
XM_011536673.1 |
2529 |
Missense Mutation |
ACG,GCG |
T576A |
XP_011534975.1 |
XM_011536674.1 |
2529 |
Missense Mutation |
ACG,GCG |
T455A |
XP_011534976.1 |
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