Product Details
- SNP ID
-
rs139316874
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
2
- Location
-
Chr.1:111188159 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CAGGAGGATTCTTGCTCTTCTCGGC[C/T]TCCTGGATGAAAAGTGAGAAGAGCT
- Phenotype
-
MIM: 616751
MIM: 615111
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CEPT1
PubMed Links
Gene Details
- Gene
- CEPT1
- Gene Name
- choline/ethanolamine phosphotransferase 1
There are no transcripts associated with this gene.
- Gene
- DENND2D
- Gene Name
- DENN domain containing 2D
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001271833.1 |
1555 |
Silent Mutation |
GAA,GAG |
E434E |
NP_001258762.1 |
| NM_024901.4 |
1555 |
Silent Mutation |
GAA,GAG |
E437E |
NP_079177.2 |
| XM_006710921.2 |
1555 |
Silent Mutation |
GAA,GAG |
E451E |
XP_006710984.2 |
| XM_006710922.1 |
1555 |
Silent Mutation |
GAA,GAG |
E381E |
XP_006710985.1 |
| XM_006710923.1 |
1555 |
Silent Mutation |
GAA,GAG |
E381E |
XP_006710986.1 |
| XM_006710924.1 |
1555 |
Silent Mutation |
GAA,GAG |
E381E |
XP_006710987.1 |
| XM_011542187.1 |
1555 |
Silent Mutation |
GAA,GAG |
E425E |
XP_011540489.1 |
| XM_011542189.1 |
1555 |
Silent Mutation |
GAA,GAG |
E381E |
XP_011540491.1 |
| XM_011542190.2 |
1555 |
Silent Mutation |
GAA,GAG |
E425E |
XP_011540492.1 |
| XM_017002386.1 |
1555 |
Silent Mutation |
GAA,GAG |
E257E |
XP_016857875.1 |
| XM_017002387.1 |
1555 |
Silent Mutation |
GAA,GAG |
E257E |
XP_016857876.1 |
| XM_017002388.1 |
1555 |
Silent Mutation |
GAA,GAG |
E257E |
XP_016857877.1 |
| XM_017002389.1 |
1555 |
Intron |
|
|
XP_016857878.1 |
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