ENST00000257860.9 PRPH

Information
Transcript ID
ENST00000257860.9
Genome
hg19
Position
chr12:49,688,930-49,692,469
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 49,688,930 49,689,528
2 49,689,961 49,690,021
3 49,690,215 49,690,310
4 49,690,672 49,690,839
5 49,690,931 49,691,056
6 49,691,140 49,691,360
7 49,691,460 49,691,509
8 49,691,741 49,691,820
9 49,692,071 49,692,469
CDS
Exon number Type Start Stop
1 CDS 49,688,984 49,689,528
2 CDS 49,689,961 49,690,021
3 CDS 49,690,215 49,690,310
4 CDS 49,690,672 49,690,839
5 CDS 49,690,931 49,691,056
6 CDS 49,691,140 49,691,360
7 CDS 49,691,460 49,691,509
8 CDS 49,691,741 49,691,820
9 CDS 49,692,071 49,692,136
Other genome
Genome Chromosome Start End Links
hg38 chr12 49,295,147 49,298,686 Link
CDS sequence
ATGAGCCACCACCCGTCGGGCCTCCGGGCCGGCTTCAGCTCCACCTCATACCGCCGTACCTTCGGTCCACCGCCCTCACTATCCCCCGGGGCCTTCTCCTACTCGTCCAGCTCCCGCTTCTCCAGCAGCCGCCTGCTGGGCTCCGCGTCCCCGAGCTCCTCGGTGCGCCTGGGCAGCTTCCGTAGCCCCCGAGCGGGAGCGGGCGCCCTCCTGCGCCTGCCCTCGGAGCGCCTCGACTTCTCCATGGCCGAGGCCCTCAACCAGGAGTTCCTGGCCACGCGCAGCAACGAGAAGCAGGAGCTGCAGGAGCTCAACGACCGCTTCGCCAACTTCATCGAGAAGGTACGCTTTCTGGAGCAGCAGAACGCGGCCCTGCGCGGGGAGCTGAGCCAAGCCCGGGGCCAGGAGCCGGCGCGCGCCGACCAGCTGTGCCAGCAGGAGCTGCGCGAGCTGCGGCGAGAGCTGGAGCTGTTGGGCCGCGAGCGTGACCGGGTGCAGGTGGAGCGCGACGGGCTGGCGGAGGACCTGGCGGCGCTCAAGCAGAGGTTGGAGGAGGAGACGCGCAAGCGGGAGGACGCGGAGCACAACCTCGTGCTCTTCCGCAAGGACGTGGACGATGCCACTCTGTCCCGCCTGGAACTAGAGCGCAAGATTGAGTCTCTGATGGATGAGATTGAGTTCCTCAAGAAGCTGCACGAGGAGGAGCTGCGAGACCTGCAGGTGAGTGTGGAGAGCCAGCAGGTGCAGCAGGTGGAGGTGGAAGCCACGGTGAAGCCCGAGCTGACGGCAGCGCTGAGGGACATCCGCGCGCAGTACGAGAGCATCGCCGCGAAGAACCTGCAGGAGGCGGAGGAGTGGTACAAGTCCAAGTACGCGGACCTGTCCGACGCTGCCAACCGGAACCACGAGGCCCTGCGCCAGGCCAAGCAGGAGATGAACGAGTCCCGACGCCAGATCCAGAGTCTAACGTGCGAGGTGGACGGGCTGCGCGGCACGAACGAGGCGCTGCTCAGGCAGTTGAGAGAGCTGGAGGAGCAGTTCGCCCTGGAGGCGGGGGGCTACCAGGCGGGCGCTGCGCGGCTCGAGGAGGAGCTGCGACAGCTAAAAGAGGAGATGGCGCGGCACCTGAGGGAGTACCAGGAGCTCCTCAACGTCAAGATGGCCCTGGACATCGAGATCGCCACCTACCGCAAGCTGCTGGAGGGCGAGGAGAGCCGGATCTCCGTGCCCGTCCATTCTTTTGCCTCCTTAAATATAAAGACGACTGTGCCTGAGGTGGAGCCTCCCCAGGACAGCCACAGCCGGAAGACGGTTCTGATCAAGACCATTGAGACCCGGAATGGGGAGGTGGTGACAGAGTCCCAGAAGGAGCAGCGCAGTGAGCTGGACAAGTCTTCTGCCCACAGTTACTGA
Amino sequence
MSHHPSGLRAGFSSTSYRRTFGPPPSLSPGAFSYSSSSRFSSSRLLGSASPSSSVRLGSFRSPRAGAGALLRLPSERLDFSMAEALNQEFLATRSNEKQELQELNDRFANFIEKVRFLEQQNAALRGELSQARGQEPARADQLCQQELRELRRELELLGRERDRVQVERDGLAEDLAALKQRLEEETRKREDAEHNLVLFRKDVDDATLSRLELERKIESLMDEIEFLKKLHEEELRDLQVSVESQQVQQVEVEATVKPELTAALRDIRAQYESIAAKNLQEAEEWYKSKYADLSDAANRNHEALRQAKQEMNESRRQIQSLTCEVDGLRGTNEALLRQLRELEEQFALEAGGYQAGAARLEEELRQLKEEMARHLREYQELLNVKMALDIEIATYRKLLEGEESRISVPVHSFASLNIKTTVPEVEPPQDSHSRKTVLIKTIETRNGEVVTESQKEQRSELDKSSAHSY*