chr11:74006339:A>G Detail (hg38) (UCP3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:73,717,384-73,717,384 View the variant detail on this assembly version. |
| hg38 | chr11:74,006,339-74,006,339 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_003356.3:c.167T>C | NP_003347.1:p.Val56Ala |
| NM_022803.2:c.167T>C | NP_073714.1:p.Val56Ala | |
| Ensemble | ENST00000314032.9:c.167T>C | ENST00000314032.9:p.Val56Ala |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.231 | obesity | We analyzed the obesity-related phenotypes body mass index (BMI), percentage of ... | BeFree | 15959859 | Detail |
| 0.343 | obesity | We analyzed the obesity-related phenotypes body mass index (BMI), percentage of ... | BeFree | 15959859 | Detail |
| 0.440 | obesity | We analyzed the obesity-related phenotypes body mass index (BMI), percentage of ... | BeFree | 15959859 | Detail |
| 0.335 | obesity | We analyzed the obesity-related phenotypes body mass index (BMI), percentage of ... | BeFree | 15959859 | Detail |
| 0.223 | obesity | We analyzed the obesity-related phenotypes body mass index (BMI), percentage of ... | BeFree | 15959859 | Detail |
| 0.439 | obesity | We analyzed the obesity-related phenotypes body mass index (BMI), percentage of ... | BeFree | 15959859 | Detail |
| 0.309 | obesity | We analyzed the obesity-related phenotypes body mass index (BMI), percentage of ... | BeFree | 15959859 | Detail |
| 0.109 | Diabetes Mellitus, Non-Insulin-Dependent | UCP2 -866G/A and Ala55Val, and UCP3 -55C/T polymorphisms in association with typ... | BeFree | 21751002 | Detail |
| 0.223 | obesity | In our case-control study we were not able to demonstrate any association betwee... | BeFree | 24752406 | Detail |
| 0.109 | Diabetes Mellitus, Non-Insulin-Dependent | Ala55Val and -55C/T polymorphisms at the UCP3-2 loci are associated with a signi... | BeFree | 21175267 | Detail |
| 0.274 | Diabetes Mellitus, Non-Insulin-Dependent | Associations between UCP1 -3826A/G, UCP2 -866G/A, Ala55Val and Ins/Del, and UCP3... | BeFree | 23365654 | Detail |
| 0.020 | Diabetes Mellitus, Non-Insulin-Dependent | Associations between UCP1 -3826A/G, UCP2 -866G/A, Ala55Val and Ins/Del, and UCP3... | BeFree | 23365654 | Detail |
| 0.309 | obesity | In our case-control study we were not able to demonstrate any association betwee... | BeFree | 24752406 | Detail |
| <0.001 | obesity | But neither the UCP2 Ala55Val nor the UCP3 -55C/T polymorphism showed any signif... | BeFree | 23560041 | Detail |
| 0.274 | Diabetes Mellitus, Non-Insulin-Dependent | UCP2 -866G/A and Ala55Val, and UCP3 -55C/T polymorphisms in association with typ... | BeFree | 21751002 | Detail |
| 0.309 | obesity | UCP2 -866G/A, Ala55Val and UCP3 -55C/T polymorphisms in association with obesity... | BeFree | 23560041 | Detail |
| 0.223 | obesity | UCP2 -866G/A, Ala55Val and UCP3 -55C/T polymorphisms in association with obesity... | BeFree | 23560041 | Detail |
| 0.109 | Diabetes Mellitus, Non-Insulin-Dependent | Associations between UCP1 -3826A/G, UCP2 -866G/A, Ala55Val and Ins/Del, and UCP3... | BeFree | 23365654 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We analyzed the obesity-related phenotypes body mass index (BMI), percentage of body fat, plasma lep... | DisGeNET | Detail |
| We analyzed the obesity-related phenotypes body mass index (BMI), percentage of body fat, plasma lep... | DisGeNET | Detail |
| We analyzed the obesity-related phenotypes body mass index (BMI), percentage of body fat, plasma lep... | DisGeNET | Detail |
| We analyzed the obesity-related phenotypes body mass index (BMI), percentage of body fat, plasma lep... | DisGeNET | Detail |
| We analyzed the obesity-related phenotypes body mass index (BMI), percentage of body fat, plasma lep... | DisGeNET | Detail |
| We analyzed the obesity-related phenotypes body mass index (BMI), percentage of body fat, plasma lep... | DisGeNET | Detail |
| We analyzed the obesity-related phenotypes body mass index (BMI), percentage of body fat, plasma lep... | DisGeNET | Detail |
| UCP2 -866G/A and Ala55Val, and UCP3 -55C/T polymorphisms in association with type 2 diabetes suscept... | DisGeNET | Detail |
| In our case-control study we were not able to demonstrate any association between UCP polymorphisms ... | DisGeNET | Detail |
| Ala55Val and -55C/T polymorphisms at the UCP3-2 loci are associated with a significantly reduced ris... | DisGeNET | Detail |
| Associations between UCP1 -3826A/G, UCP2 -866G/A, Ala55Val and Ins/Del, and UCP3 -55C/T polymorphism... | DisGeNET | Detail |
| Associations between UCP1 -3826A/G, UCP2 -866G/A, Ala55Val and Ins/Del, and UCP3 -55C/T polymorphism... | DisGeNET | Detail |
| In our case-control study we were not able to demonstrate any association between UCP polymorphisms ... | DisGeNET | Detail |
| But neither the UCP2 Ala55Val nor the UCP3 -55C/T polymorphism showed any significant association wi... | DisGeNET | Detail |
| UCP2 -866G/A and Ala55Val, and UCP3 -55C/T polymorphisms in association with type 2 diabetes suscept... | DisGeNET | Detail |
| UCP2 -866G/A, Ala55Val and UCP3 -55C/T polymorphisms in association with obesity susceptibility - a ... | DisGeNET | Detail |
| UCP2 -866G/A, Ala55Val and UCP3 -55C/T polymorphisms in association with obesity susceptibility - a ... | DisGeNET | Detail |
| Associations between UCP1 -3826A/G, UCP2 -866G/A, Ala55Val and Ins/Del, and UCP3 -55C/T polymorphism... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg38
- Position
- chr11:74,006,339-74,006,339
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 6912
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 90428
- Allele Counts in All Race (ExAC)
- 2
- Heterozygous Counts in All Race (ExAC)
- 2
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.2117043393639138E-5
Genome browser