ENST00000257860.9 PRPH

Information
Transcript ID
ENST00000257860.9
Genome
hg38
Position
chr12:49,295,147-49,298,686
Strand
+
CDS length
1,413
Amino acid length
471
Gene symbol
PRPH
Gene type
protein-coding
Gene description
peripherin
Gene Entrez Gene ID
5630
Variants

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Target data :
MGeND data only
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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
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Target data :
MGeND data only
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
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Target data :
MGeND data only
Category :
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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
1 49,295,147 49,295,745
2 49,296,178 49,296,238
3 49,296,432 49,296,527
4 49,296,889 49,297,056
5 49,297,148 49,297,273
6 49,297,357 49,297,577
7 49,297,677 49,297,726
8 49,297,958 49,298,037
9 49,298,288 49,298,686
CDS
Exon number Type Start Stop
1 CDS 49,295,201 49,295,745
2 CDS 49,296,178 49,296,238
3 CDS 49,296,432 49,296,527
4 CDS 49,296,889 49,297,056
5 CDS 49,297,148 49,297,273
6 CDS 49,297,357 49,297,577
7 CDS 49,297,677 49,297,726
8 CDS 49,297,958 49,298,037
9 CDS 49,298,288 49,298,353
Other genome
Genome Chromosome Start End Links
hg19 chr12 49,688,930 49,692,469 Link
CDS sequence
ATGAGCCACCACCCGTCGGGCCTCCGGGCCGGCTTCAGCTCCACCTCATACCGCCGTACCTTCGGTCCACCGCCCTCACTATCCCCCGGGGCCTTCTCCTACTCGTCCAGCTCCCGCTTCTCCAGCAGCCGCCTGCTGGGCTCCGCGTCCCCGAGCTCCTCGGTGCGCCTGGGCAGCTTCCGTAGCCCCCGAGCGGGAGCGGGCGCCCTCCTGCGCCTGCCCTCGGAGCGCCTCGACTTCTCCATGGCCGAGGCCCTCAACCAGGAGTTCCTGGCCACGCGCAGCAACGAGAAGCAGGAGCTGCAGGAGCTCAACGACCGCTTCGCCAACTTCATCGAGAAGGTACGCTTTCTGGAGCAGCAGAACGCGGCCCTGCGCGGGGAGCTGAGCCAAGCCCGGGGCCAGGAGCCGGCGCGCGCCGACCAGCTGTGCCAGCAGGAGCTGCGCGAGCTGCGGCGAGAGCTGGAGCTGTTGGGCCGCGAGCGTGACCGGGTGCAGGTGGAGCGCGACGGGCTGGCGGAGGACCTGGCGGCGCTCAAGCAGAGGTTGGAGGAGGAGACGCGCAAGCGGGAGGACGCGGAGCACAACCTCGTGCTCTTCCGCAAGGACGTGGACGATGCCACTCTGTCCCGCCTGGAACTAGAGCGCAAGATTGAGTCTCTGATGGATGAGATTGAGTTCCTCAAGAAGCTGCACGAGGAGGAGCTGCGAGACCTGCAGGTGAGTGTGGAGAGCCAGCAGGTGCAGCAGGTGGAGGTGGAAGCCACGGTGAAGCCCGAGCTGACGGCAGCGCTGAGGGACATCCGCGCGCAGTACGAGAGCATCGCCGCGAAGAACCTGCAGGAGGCGGAGGAGTGGTACAAGTCCAAGTACGCGGACCTGTCCGACGCTGCCAACCGGAACCACGAGGCCCTGCGCCAGGCCAAGCAGGAGATGAACGAGTCCCGACGCCAGATCCAGAGTCTAACGTGCGAGGTGGACGGGCTGCGCGGCACGAACGAGGCGCTGCTCAGGCAGTTGAGAGAGCTGGAGGAGCAGTTCGCCCTGGAGGCGGGGGGCTACCAGGCGGGCGCTGCGCGGCTCGAGGAGGAGCTGCGACAGCTAAAAGAGGAGATGGCGCGGCACCTGAGGGAGTACCAGGAGCTCCTCAACGTCAAGATGGCCCTGGACATCGAGATCGCCACCTACCGCAAGCTGCTGGAGGGCGAGGAGAGCCGGATCTCCGTGCCCGTCCATTCTTTTGCCTCCTTAAATATAAAGACGACTGTGCCTGAGGTGGAGCCTCCCCAGGACAGCCACAGCCGGAAGACGGTTCTGATCAAGACCATTGAGACCCGGAATGGGGAGGTGGTGACAGAGTCCCAGAAGGAGCAGCGCAGTGAGCTGGACAAGTCTTCTGCCCACAGTTACTGA
Amino sequence
MSHHPSGLRAGFSSTSYRRTFGPPPSLSPGAFSYSSSSRFSSSRLLGSASPSSSVRLGSFRSPRAGAGALLRLPSERLDFSMAEALNQEFLATRSNEKQELQELNDRFANFIEKVRFLEQQNAALRGELSQARGQEPARADQLCQQELRELRRELELLGRERDRVQVERDGLAEDLAALKQRLEEETRKREDAEHNLVLFRKDVDDATLSRLELERKIESLMDEIEFLKKLHEEELRDLQVSVESQQVQQVEVEATVKPELTAALRDIRAQYESIAAKNLQEAEEWYKSKYADLSDAANRNHEALRQAKQEMNESRRQIQSLTCEVDGLRGTNEALLRQLRELEEQFALEAGGYQAGAARLEEELRQLKEEMARHLREYQELLNVKMALDIEIATYRKLLEGEESRISVPVHSFASLNIKTTVPEVEPPQDSHSRKTVLIKTIETRNGEVVTESQKEQRSELDKSSAHSY*