ER > PIEZO1
Genetic changes| Quick Filter: | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| nt change | aa change | Location | hg19 | hg38 | rsNum | ||||
| c.7180G>A | p.Gly2394Ser | Exon 50 | chr16:None | chr16:None | rs201950081 | ||||
| c.7219G>C | p.Glu2407Gln | Exon 50 | chr16:None | chr16:None | rs200291894 | ||||
| c.5289C>G | p.Tyr1763Ter | Exon 38 | chr16:None | chr16:None | rs72811487 | ||||
| c.7219G>A | p.Glu2407Lys | Exon 50 | chr16:None | chr16:None | rs200291894 | ||||
| c.7174G>A | p.Glu2392Lys | Exon 50 | chr16:None | chr16:None | rs528448732 | ||||
| c.6734G>A | p.Arg2245Gln | Exon 46 | chr16:None | chr16:None | rs2290901 | ||||
| Piezo Type Mechanosensitive Ion Channel Component 1 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Chromosome: | chr16 | ||||||||||
| Strand: | - | ||||||||||
| Genomic ref.: | NG_042229.1 | ||||||||||
| Transcript ref.: | NM_001142864.4 | ||||||||||
| Protein ref.: | NP_001136336.2 | ||||||||||
| Entrez GeneID: | 9780 | ||||||||||
| HGNC ID: | 28993 | ||||||||||
| Further links: | GTEx Portal, gnomAD | ||||||||||
| hg19: |
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| hg38: |
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