chr17:33329049:G>A Detail (hg19) (LIG3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:33,329,049-33,329,049 |
| hg38 | chr17:35,002,030-35,002,030 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_013975.3:c.2600G>A | NP_039269.2:p.Arg867His |
| NM_002311.4:c.2600G>A | NP_002302.2:p.Arg867His | |
| Ensemble | ENST00000378526.9:c.2600G>A | ENST00000378526.9:p.Arg867His |
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 |
|---|---|---|
| We hypothesized that common nsSNPs of BER genes, specifically ADPRT rs1136410, XRCC1 rs25487, rs2548... | 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
- chr17:33,329,049-33,329,049
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8628
- 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)
- 120082
- Allele Counts in All Race (ExAC)
- 1003
- Heterozygous Counts in All Race (ExAC)
- 919
- Homozygous Counts in All Race (ExAC)
- 42
- Allele Frequency in All Race (ExAC)
- 0.008352625705767726
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