Search Thermo Fisher Scientific
- SNP ID:
- rs138992080
- Gene
-
CIDEB
DHRS1LTB4RLTB4R2NOP9 - Gene Name
- cell death-inducing DFFA-like effector b
- Set Membership:
- -
- Chromosome Location:
- Chr.14: 24305671 - 24305671 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
AGGCGGCCCTTCTGCTGCCACTGCT[C/T]AGCCCCCTCCACTGCATGACGAAGG
Genomic Map
Back To TopAssay Details
Species: |
Human |
dbSNP Submissions: |
NA
|
Phenotype: |
MIM: 604441
MIM: 610410
MIM: 601531
MIM: 605773
|
Literature Links: |
CIDEB PubMed Links |
Allele Nomenclature: |
|
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
|
|||||
AMR
|
| CIDEB - cell death-inducing DFFA-like effector b | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001318807.1 | 1758 | Missense Mutation | AAG,GAG | K,E 208 | NP_001305736.1 | |
| NM_014430.2 | 1758 | Missense Mutation | AAG,GAG | K,E 208 | NP_055245.2 | |
| XM_011536659.2 | 1758 | Missense Mutation | AAG,GAG | K,E 208 | XP_011534961.1 | |
| XM_017021221.1 | 1758 | Missense Mutation | AAG,GAG | K,E 208 | XP_016876710.1 | |
| DHRS1 - dehydrogenase/reductase 1 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
| LTB4R - leukotriene B4 receptor | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
| LTB4R2 - leukotriene B4 receptor 2 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
| NOP9 - NOP9 nucleolar protein | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001286367.1 | 1758 | UTR 3 | NP_001273296.1 | |||
| NM_174913.2 | 1758 | UTR 3 | NP_777573.1 | |||
| XM_005267385.1 | 1758 | UTR 3 | XP_005267442.1 | |||
| XM_011536526.1 | 1758 | UTR 3 | XP_011534828.1 | |||
| XM_011536527.2 | 1758 | Intron | XP_011534829.1 | |||
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