Product Details
- SNP ID
-
rs143756679
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
13
- Location
-
Chr.1:111188277 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TTCTTGGAAGTGGCCTTGCCCATTT[G/T]CCTCCCGCTTGATATAGGAAGCATA
- Phenotype
-
MIM: 616751
MIM: 615111
- Polymorphism
- G/T, Transversion Substitution
- Allele Nomenclature
-
- Literature Links
-
CEPT1
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs608881] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
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 |
1437 |
Missense Mutation |
GAA,GCA |
E395A |
NP_001258762.1 |
NM_024901.4 |
1437 |
Missense Mutation |
GAA,GCA |
E398A |
NP_079177.2 |
XM_006710921.2 |
1437 |
Missense Mutation |
GAA,GCA |
E412A |
XP_006710984.2 |
XM_006710922.1 |
1437 |
Missense Mutation |
GAA,GCA |
E342A |
XP_006710985.1 |
XM_006710923.1 |
1437 |
Missense Mutation |
GAA,GCA |
E342A |
XP_006710986.1 |
XM_006710924.1 |
1437 |
Missense Mutation |
GAA,GCA |
E342A |
XP_006710987.1 |
XM_011542187.1 |
1437 |
Missense Mutation |
GAA,GCA |
E386A |
XP_011540489.1 |
XM_011542189.1 |
1437 |
Missense Mutation |
GAA,GCA |
E342A |
XP_011540491.1 |
XM_011542190.2 |
1437 |
Missense Mutation |
GAA,GCA |
E386A |
XP_011540492.1 |
XM_017002386.1 |
1437 |
Missense Mutation |
GAA,GCA |
E218A |
XP_016857875.1 |
XM_017002387.1 |
1437 |
Missense Mutation |
GAA,GCA |
E218A |
XP_016857876.1 |
XM_017002388.1 |
1437 |
Missense Mutation |
GAA,GCA |
E218A |
XP_016857877.1 |
XM_017002389.1 |
1437 |
Intron |
|
|
XP_016857878.1 |
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