Assay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
4 submissions
|
||||||||||||||||||||
Phenotype: |
|
||||||||||||||||||||
Literature Links: |
CEPT1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
| CEPT1 - choline/ethanolamine phosphotransferase 1 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
| DENND2D - DENN domain containing 2D | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001271833.1 | 1257 | Missense Mutation | TCG,TTG | S,L 335 | NP_001258762.1 | |
| NM_024901.4 | 1257 | Missense Mutation | TCG,TTG | S,L 338 | NP_079177.2 | |
| XM_006710921.2 | 1257 | Missense Mutation | TCG,TTG | S,L 352 | XP_006710984.2 | |
| XM_006710922.1 | 1257 | Missense Mutation | TCG,TTG | S,L 282 | XP_006710985.1 | |
| XM_006710923.1 | 1257 | Missense Mutation | TCG,TTG | S,L 282 | XP_006710986.1 | |
| XM_006710924.1 | 1257 | Missense Mutation | TCG,TTG | S,L 282 | XP_006710987.1 | |
| XM_011542187.1 | 1257 | Missense Mutation | TCG,TTG | S,L 326 | XP_011540489.1 | |
| XM_011542189.1 | 1257 | Missense Mutation | TCG,TTG | S,L 282 | XP_011540491.1 | |
| XM_011542190.2 | 1257 | Missense Mutation | TCG,TTG | S,L 326 | XP_011540492.1 | |
| XM_017002386.1 | 1257 | Missense Mutation | TCG,TTG | S,L 158 | XP_016857875.1 | |
| XM_017002387.1 | 1257 | Missense Mutation | TCG,TTG | S,L 158 | XP_016857876.1 | |
| XM_017002388.1 | 1257 | Missense Mutation | TCG,TTG | S,L 158 | XP_016857877.1 | |
| XM_017002389.1 | 1257 | Intron | XP_016857878.1 | |||

CEPT1
Genomic Map