chrX:77528317:G>T Detail (hg19) (CYSLTR1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrX:77,528,317-77,528,317 |
| hg38 | chrX:78,272,820-78,272,820 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001282187.1:c.927C>A | NP_001269116.1:p.Phe309Leu |
| NM_001282188.1:c.927C>A | NP_001269117.1:p.Phe309Leu | |
| NM_006639.3:c.927C>A | NP_006630.1:p.Phe309Leu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | asthma | In the initial sample, three SNPs, rs320995 in the cysteinyl leukotriene recepto... | BeFree | 18829683 | Detail |
| 0.010 | asthma | In the initial sample, three SNPs, rs320995 in the cysteinyl leukotriene recepto... | BeFree | 18829683 | Detail |
| 0.055 | asthma | A TaqMan allelic discrimination assay was used to genotype a 927T/C SNP and olig... | BeFree | 16776674 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In the initial sample, three SNPs, rs320995 in the cysteinyl leukotriene receptor 1 gene, rs1047266 ... | DisGeNET | Detail |
| In the initial sample, three SNPs, rs320995 in the cysteinyl leukotriene receptor 1 gene, rs1047266 ... | DisGeNET | Detail |
| A TaqMan allelic discrimination assay was used to genotype a 927T/C SNP and oligonucleotide ligation... | 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
- -
- dbSNP
- rs320995 dbSNP
- Genome
- hg19
- Position
- chrX:77,528,317-77,528,317
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser