Product Details
- SNP ID
-
rs200973224
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.3:9750400 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCTCTGAGCTGCGCCTGGACCTGGT[G/T]CTGCCTTCTGGACAATCTTTCCGGT
- Phenotype
-
MIM: 602410
MIM: 604998
MIM: 601982
- Polymorphism
- G/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
BRPF1
PubMed Links
Gene Details
- Gene
- BRPF1
- Gene Name
- bromodomain and PHD finger containing 1
There are no transcripts associated with this gene.
- Gene
- CAMK1
- Gene Name
- calcium/calmodulin dependent protein kinase I
There are no transcripts associated with this gene.
- Gene
- OGG1
- Gene Name
- 8-oxoguanine DNA glycosylase
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_002542.5 |
452 |
Silent Mutation |
GTG,GTT |
V38V |
NP_002533.1 |
| NM_016819.3 |
452 |
Silent Mutation |
GTG,GTT |
V38V |
NP_058212.1 |
| NM_016820.3 |
452 |
Silent Mutation |
GTG,GTT |
V38V |
NP_058213.1 |
| NM_016821.2 |
452 |
Silent Mutation |
GTG,GTT |
V38V |
NP_058214.1 |
| NM_016826.2 |
452 |
Silent Mutation |
GTG,GTT |
V38V |
NP_058434.1 |
| NM_016827.2 |
452 |
Silent Mutation |
GTG,GTT |
V38V |
NP_058436.1 |
| NM_016828.2 |
452 |
Silent Mutation |
GTG,GTT |
V38V |
NP_058437.1 |
| NM_016829.2 |
452 |
Silent Mutation |
GTG,GTT |
V38V |
NP_058438.1 |
| XM_011533760.1 |
452 |
Silent Mutation |
GTG,GTT |
V38V |
XP_011532062.1 |
| XM_017006493.1 |
452 |
Silent Mutation |
GTG,GTT |
V38V |
XP_016861982.1 |
| XM_017006494.1 |
452 |
Silent Mutation |
GTG,GTT |
V38V |
XP_016861983.1 |
| XM_017006495.1 |
452 |
Silent Mutation |
GTG,GTT |
V38V |
XP_016861984.1 |
| XM_017006496.1 |
452 |
Silent Mutation |
GTG,GTT |
V38V |
XP_016861985.1 |
| XM_017006497.1 |
452 |
Silent Mutation |
GTG,GTT |
V38V |
XP_016861986.1 |
| XM_017006498.1 |
452 |
Silent Mutation |
GTG,GTT |
V38V |
XP_016861987.1 |
| XM_017006499.1 |
452 |
Silent Mutation |
GTG,GTT |
V38V |
XP_016861988.1 |
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