chr9:120474721:T>C Detail (hg19) (TLR4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:120,474,721-120,474,721 |
| hg38 | chr9:117,712,443-117,712,443 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_138554.4:c.315T>C | NP_612564.1:p.Ser105= |
| NM_003266.3:c.195T>C | NP_003257.1:p.Ser65= | |
| Ensemble | ENST00000355622.8:c.315T>C | ENST00000355622.8:p.Ser105= |
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
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The major alleles of coding SNPs in the TLR2 (rs3804100) and TLR4 (rs5030710) genes were associated ... | 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
- hg19
- Position
- chr9:120,474,721-120,474,721
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 8602
- 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)
- 120806
- Allele Counts in All Race (ExAC)
- 1764
- Heterozygous Counts in All Race (ExAC)
- 1538
- Homozygous Counts in All Race (ExAC)
- 113
- Allele Frequency in All Race (ExAC)
- 0.014601923745509329
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