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- SNP ID:
- rs139213839
- Gene
-
ENOX2 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.X: 130631476 - 130631476 on Build GRCh38
- Polymorphism:
- A/C, Transversion substitution
- Context Sequence [VIC/FAM]:
TGCATTAGCTTCCTTACCCACTAGC[A/C]GTGCTTCACGTTCAGATTTGATAGG
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300282
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Literature Links: |
ENOX2 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 |
| ENOX2 - ecto-NOX disulfide-thiol exchanger 2 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001281736.1 | 2327 | Missense Mutation | CGG,CTG | R,L 507 | NP_001268665.1 | |
| NM_006375.3 | 2327 | Missense Mutation | CGG,CTG | R,L 507 | NP_006366.2 | |
| NM_182314.2 | 2327 | Missense Mutation | CGG,CTG | R,L 536 | NP_872114.1 | |
| XM_005262354.3 | 2327 | Missense Mutation | CGG,CTG | R,L 536 | XP_005262411.1 | |
| XM_011531244.2 | 2327 | Missense Mutation | CGG,CTG | R,L 599 | XP_011529546.1 | |
| XM_011531245.2 | 2327 | Missense Mutation | CGG,CTG | R,L 597 | XP_011529547.1 | |
| XM_011531247.2 | 2327 | Missense Mutation | CGG,CTG | R,L 536 | XP_011529549.1 | |
| XM_011531249.2 | 2327 | Missense Mutation | CGG,CTG | R,L 536 | XP_011529551.1 | |
| XM_011531251.2 | 2327 | Missense Mutation | CGG,CTG | R,L 507 | XP_011529553.1 | |
| XM_017029226.1 | 2327 | Missense Mutation | CGG,CTG | R,L 536 | XP_016884715.1 | |
| XM_017029227.1 | 2327 | Missense Mutation | CGG,CTG | R,L 536 | XP_016884716.1 | |
| XM_017029228.1 | 2327 | Missense Mutation | CGG,CTG | R,L 536 | XP_016884717.1 | |
| XM_017029229.1 | 2327 | Missense Mutation | CGG,CTG | R,L 505 | XP_016884718.1 | |
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