Product Details
- SNP ID
-
rs145929825
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
2
- Location
-
Chr.1:44214851 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CGGAGCAATGTTCTTCCACTGGCGA[C/T]GTGCAGCGGAGGAGGGCAAGGACTA
- Phenotype
-
MIM: 605077
MIM: 609917
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
DMAP1
PubMed Links
Gene Details
- Gene
- DMAP1
- Gene Name
- DNA methyltransferase 1 associated protein 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001034023.1 |
471 |
Missense Mutation |
CGT,TGT |
R116C |
NP_001029195.1 |
| NM_001034024.1 |
471 |
Missense Mutation |
CGT,TGT |
R116C |
NP_001029196.1 |
| NM_019100.4 |
471 |
Missense Mutation |
CGT,TGT |
R116C |
NP_061973.1 |
| XM_005271037.4 |
471 |
Missense Mutation |
CGT,TGT |
R116C |
XP_005271094.1 |
| XM_005271039.1 |
471 |
Missense Mutation |
CGT,TGT |
R116C |
XP_005271096.1 |
| XM_005271040.1 |
471 |
Missense Mutation |
CGT,TGT |
R116C |
XP_005271097.1 |
| XM_006710771.3 |
471 |
Missense Mutation |
CGT,TGT |
R68C |
XP_006710834.1 |
| XM_011541784.2 |
471 |
Missense Mutation |
CGT,TGT |
R116C |
XP_011540086.1 |
| XM_011541785.2 |
471 |
Missense Mutation |
CGT,TGT |
R116C |
XP_011540087.1 |
| XM_017001807.1 |
471 |
Missense Mutation |
CGT,TGT |
R116C |
XP_016857296.1 |
| XM_017001808.1 |
471 |
Missense Mutation |
CGT,TGT |
R116C |
XP_016857297.1 |
- Gene
- ERI3
- Gene Name
- ERI1 exoribonuclease family member 3
There are no transcripts associated with this gene.
- Gene
- ERI3-IT1
- Gene Name
- ERI3 intronic transcript 1
There are no transcripts associated with this gene.
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