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- SNP ID:
- rs146116229
- Gene
-
ADOEGR2 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.10: 62813239 - 62813239 on Build GRCh38
- Polymorphism:
- C/G, Transversion substitution
- Context Sequence [VIC/FAM]:
GTCCGGGTCCGAGAGGAGCAAGGGG[C/G]GAGCGGCCCTCCGCCAAGACTGCTG
Genomic Map
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Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611392
MIM: 129010
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Literature Links: |
ADO PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
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AMR
|
| ADO - 2-aminoethanethiol dioxygenase | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
| EGR2 - early growth response 2 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_000399.4 | 1608 | Missense Mutation | CCC,GCC | P,A 467 | NP_000390.2 | |
| NM_001136177.2 | 1608 | Missense Mutation | CCC,GCC | P,A 467 | NP_001129649.1 | |
| NM_001136178.1 | 1608 | Missense Mutation | CCC,GCC | P,A 467 | NP_001129650.1 | |
| NM_001136179.2 | 1608 | Missense Mutation | CCC,GCC | P,A 417 | NP_001129651.1 | |
| NM_001321037.1 | 1608 | Missense Mutation | CCC,GCC | P,A 417 | NP_001307966.1 | |
| XM_011539427.1 | 1608 | Missense Mutation | CCC,GCC | P,A 480 | XP_011537729.1 | |
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