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- SNP ID:
- rs116580959
- Gene
-
TMEM189-UBE2V1UBE2V1 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.20: 50082819 - 50082819 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
GCGGCTGAGGGAGTTTCATATTTTC[C/T]TTAGACATCATTAGGCGCCGAAGCT
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602995
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Literature Links: |
TMEM189-UBE2V1 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
|
| TMEM189-UBE2V1 - TMEM189-UBE2V1 readthrough | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_199203.2 | 769 | Silent Mutation | AAA,AAG | K,K 354 | NP_954673.1 | |
| UBE2V1 - ubiquitin conjugating enzyme E2 V1 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001032288.2 | 769 | Silent Mutation | AAA,AAG | K,K 131 | NP_001027459.1 | |
| NM_001257393.1 | 769 | Silent Mutation | AAA,AAG | K,K 154 | NP_001244322.1 | |
| NM_001257394.1 | 769 | Silent Mutation | AAA,AAG | K,K 87 | NP_001244323.1 | |
| NM_001257395.1 | 769 | Silent Mutation | AAA,AAG | K,K 128 | NP_001244324.1 | |
| NM_001257396.1 | 769 | Silent Mutation | AAA,AAG | K,K 89 | NP_001244325.1 | |
| NM_001257397.1 | 769 | Silent Mutation | AAA,AAG | K,K 89 | NP_001244326.1 | |
| NM_001257398.1 | 769 | Silent Mutation | AAA,AAG | K,K 89 | NP_001244327.1 | |
| NM_001257399.1 | 769 | Silent Mutation | AAA,AAG | K,K 89 | NP_001244328.1 | |
| NM_001282575.2 | 769 | Silent Mutation | AAA,AAG | K,K 75 | NP_001269504.1 | |
| NM_001282576.1 | 769 | Silent Mutation | AAA,AAG | K,K 89 | NP_001269505.1 | |
| NM_001282577.2 | 769 | Silent Mutation | AAA,AAG | K,K 75 | NP_001269506.1 | |
| NM_001282578.2 | 769 | Silent Mutation | AAA,AAG | K,K 75 | NP_001269507.1 | |
| NM_001282579.1 | 769 | Silent Mutation | AAA,AAG | K,K 89 | NP_001269508.1 | |
| NM_001282580.1 | 769 | Intron | NP_001269509.1 | |||
| NM_021988.5 | 769 | Silent Mutation | AAA,AAG | K,K 154 | NP_068823.2 | |
| NM_022442.5 | 769 | Silent Mutation | AAA,AAG | K,K 87 | NP_071887.1 | |
| NM_199144.2 | 769 | Silent Mutation | AAA,AAG | K,K 154 | NP_954595.1 | |
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