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- SNP ID:
- rs80046793
- Gene
-
ECE2PSMD2 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.3: 184292154 - 184292154 on Build GRCh38
- Polymorphism:
- C/G, Transversion substitution
- Context Sequence [VIC/FAM]:
CCCGCTTCCGCGTGCTGGGCACTCT[C/G]TCCAACTCCCGTGACTTCCTGCGGC
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610145
MIM: 606223
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Literature Links: |
ECE2 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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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 |
| ECE2 - endothelin converting enzyme 2 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001037324.2 | 2606 | Silent Mutation | CTC,CTG | L,L 709 | NP_001032401.1 | |
| NM_001100120.1 | 2606 | Silent Mutation | CTC,CTG | L,L 784 | NP_001093590.1 | |
| NM_001100121.1 | 2606 | Silent Mutation | CTC,CTG | L,L 738 | NP_001093591.1 | |
| NM_014693.3 | 2606 | Silent Mutation | CTC,CTG | L,L 856 | NP_055508.3 | |
| NM_032331.3 | 2606 | Intron | NP_115707.2 | |||
| PSMD2 - proteasome 26S subunit, non-ATPase 2 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
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