ENST00000674947.1 PMP22
Information
- Transcript ID
- ENST00000674947.1
- Genome
- hg38
- Position
- chr17:15,229,818-15,260,818
- Strand
- -
- CDS length
- 654
- Amino acid length
- 218
- Gene symbol
- PMP22
- Gene type
- protein-coding
- Gene description
- peripheral myelin protein 22
- Gene Entrez Gene ID
- 5376
Variants
Display target variant
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
Exon
| Exon number | Start | Stop |
|---|---|---|
| 4 | 15,229,818 | 15,231,080 |
| 3 | 15,239,471 | 15,239,600 |
| 2 | 15,259,094 | 15,259,193 |
| 1 | 15,260,650 | 15,260,818 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 4 | CDS | 15,230,735 | 15,231,080 |
| 3 | CDS | 15,239,471 | 15,239,600 |
| 2 | CDS | 15,259,094 | 15,259,193 |
| 1 | CDS | 15,260,650 | 15,260,727 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg19 | chr17 | 15,133,135 | 15,164,135 | Link |
CDS sequence
ATGCTCCTCCTGTTGCTGAGTATCATCGTCCTCCACGTCGCGGTGCTGGTGCTGCTGTTCGTCTCCACGATCGTCAGCCAATGGATCGTGGGCAATGGACACGCAACTGATCTCTGGCAGAACTGTAGCACCTCTTCCTCAGGAAATGTCCACCACTGTTTCTCATCATCACCAAACGTCTGTCCAGGCCACCATGATCCTGTCGATCATCTTCAGCATTCTGTCTCTGTTCCTGTTCTTCTGCCAACTCTTCACCCTCACCAAGGGGGGCAGGTTTTACATCACTGGAATCTTCCAAATTCTTGCTGGTCTGTGCGTGATGAGTGCTGCGGCCATCTACACGGTGAGGCACCCGGAGTGGCATCTCAACTCGGATTACTCCTACGGTTTCGCCTACATCCTGGCCTGGGTGGCCTTCCCCCTGGCCCTTCTCAGCGGTGTCATCTATGTGATCTTGCGGAAACGCGAATGAGGCGCCCAGACGGTCTGTCTGAGGCTCTGAGCGTACATAGGGAAGGGAGGAAGGGAAAACAGAAAGCAGACAAAGAAAAAAGAGCTAGCCCAAAATCCCAAACTCAAACCAAACCAAACAGAAAGCAGTGGAGGTGGGGGTTGCTGTTGATTGAAGATGTATATAATATCTCCGGTTTATAA
Amino sequence
MLLLLLSIIVLHVAVLVLLFVSTIVSQWIVGNGHATDLWQNCSTSSSGNVHHCFSSSPNVCPGHHDPVDHLQHSVSVPVLLPTLHPHQGGQVLHHWNLPNSCWSVRDECCGHLHGEAPGVASQLGLLLRFRLHPGLGGLPPGPSQRCHLCDLAETRMRRPDGLSEALSVHREGRKGKQKADKEKRASPKSQTQTKPNRKQWRWGLLLIEDVYNISGL*