ENST00000230381.7 PRPH2
Information
- Transcript ID
- ENST00000230381.7
- Genome
- hg38
- Position
- chr6:42,696,598-42,722,597
- Strand
- -
- CDS length
- 1,041
- Amino acid length
- 347
- Gene symbol
- PRPH2
- Gene type
- protein-coding
- Gene description
- peripherin 2
- Gene Entrez Gene ID
- 5961
Variants
Display target variant
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| 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 |
|---|---|---|
| 3 | 42,696,598 | 42,698,507 |
| 2 | 42,704,365 | 42,704,611 |
| 1 | 42,721,754 | 42,722,597 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 3 | CDS | 42,698,295 | 42,698,507 |
| 2 | CDS | 42,704,365 | 42,704,611 |
| 1 | CDS | 42,721,754 | 42,722,334 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg19 | chr6 | 42,664,336 | 42,690,335 | Link |
CDS sequence
ATGGCGCTACTGAAAGTCAAGTTTGACCAGAAGAAGCGGGTCAAGTTGGCCCAAGGGCTCTGGCTCATGAACTGGTTCTCCGTGTTGGCTGGCATCATCATCTTCAGCCTAGGACTGTTCCTGAAGATTGAACTCCGAAAGAGGAGCGATGTGATGAATAATTCTGAGAGCCATTTTGTGCCCAACTCATTGATAGGGATGGGGGTGCTATCCTGTGTCTTCAACTCGCTGGCTGGGAAGATCTGCTACGACGCCCTGGACCCAGCCAAGTATGCCAGATGGAAGCCCTGGCTGAAGCCGTACCTGGCTATCTGTGTTCTCTTCAACATCATCCTCTTCCTTGTGGCTCTCTGCTGCTTTCTGCTTCGGGGCTCGCTGGAGAACACCCTGGGCCAAGGGCTCAAGAACGGCATGAAGTACTACCGGGACACAGACACCCCTGGCAGGTGTTTCATGAAGAAGACCATCGACATGCTGCAGATCGAGTTCAAATGCTGCGGCAACAACGGTTTTCGGGACTGGTTTGAGATTCAGTGGATCAGCAATCGCTACCTGGACTTTTCCTCCAAAGAAGTCAAAGATCGAATCAAGAGCAACGTGGATGGGCGGTACCTGGTGGACGGCGTCCCTTTCAGCTGCTGCAATCCTAGCTCGCCACGGCCCTGCATCCAGTATCAGATCACCAACAACTCAGCACACTACAGTTACGACCACCAGACGGAGGAGCTCAACCTGTGGGTGCGTGGCTGCAGGGCTGCCCTGCTGAGCTACTACAGCAGCCTCATGAACTCCATGGGTGTCGTCACGCTCCTCATTTGGCTCTTCGAGGTGACCATTACAATTGGGCTGCGCTACCTACAGACGTCGCTGGATGGTGTGTCCAACCCCGAGGAATCTGAGAGCGAGAGCCAGGGCTGGCTGCTGGAGAGGAGCGTGCCGGAGACCTGGAAGGCCTTTCTGGAGAGTGTGAAGAAGCTGGGCAAGGGCAACCAGGTGGAAGCCGAGGGCGCAGACGCAGGCCAGGCCCCAGAGGCTGGCTGA
Amino sequence
MALLKVKFDQKKRVKLAQGLWLMNWFSVLAGIIIFSLGLFLKIELRKRSDVMNNSESHFVPNSLIGMGVLSCVFNSLAGKICYDALDPAKYARWKPWLKPYLAICVLFNIILFLVALCCFLLRGSLENTLGQGLKNGMKYYRDTDTPGRCFMKKTIDMLQIEFKCCGNNGFRDWFEIQWISNRYLDFSSKEVKDRIKSNVDGRYLVDGVPFSCCNPSSPRPCIQYQITNNSAHYSYDHQTEELNLWVRGCRAALLSYYSSLMNSMGVVTLLIWLFEVTITIGLRYLQTSLDGVSNPEESESESQGWLLERSVPETWKAFLESVKKLGKGNQVEAEGADAGQAPEAG*