ENST00000548866.5 RPH3A

Information
Transcript ID
ENST00000548866.5
Genome
hg38
Position
chr12:112,792,188-112,897,177
Strand
+
CDS length
1,938
Amino acid length
646
Gene symbol
RPH3A
Gene type
protein-coding
Gene description
rabphilin 3A
Gene Entrez Gene ID
22895
Variants

Display target variant


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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
Category :
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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
Search Word
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
1 112,792,188 112,792,263
2 112,828,301 112,828,389
3 112,836,491 112,836,502
4 112,865,414 112,865,543
5 112,866,757 112,866,840
6 112,868,430 112,868,595
7 112,869,759 112,869,797
8 112,869,893 112,870,039
9 112,875,084 112,875,170
10 112,875,679 112,875,741
11 112,876,642 112,876,866
12 112,879,119 112,879,198
13 112,881,772 112,881,846
14 112,883,293 112,883,402
15 112,887,797 112,887,923
16 112,890,024 112,890,080
17 112,890,849 112,891,003
18 112,894,578 112,894,659
19 112,895,777 112,895,873
20 112,896,650 112,897,177
CDS
Exon number Type Start Stop
2 CDS 112,828,319 112,828,389
3 CDS 112,836,491 112,836,502
4 CDS 112,865,414 112,865,543
5 CDS 112,866,757 112,866,840
6 CDS 112,868,430 112,868,595
7 CDS 112,869,759 112,869,797
8 CDS 112,869,893 112,870,039
9 CDS 112,875,084 112,875,170
10 CDS 112,875,679 112,875,741
11 CDS 112,876,642 112,876,866
12 CDS 112,879,119 112,879,198
13 CDS 112,881,772 112,881,846
14 CDS 112,883,293 112,883,402
15 CDS 112,887,797 112,887,923
16 CDS 112,890,024 112,890,080
17 CDS 112,890,849 112,891,003
18 CDS 112,894,578 112,894,659
19 CDS 112,895,777 112,895,873
20 CDS 112,896,650 112,896,780
Other genome
Genome Chromosome Start End Links
hg19 chr12 113,229,993 113,334,982 Link
CDS sequence
ATGACTGACACCGTGTTCAGCAACAGTTCTAACCGTTGGATGTACCCCAGTGACCGGCCCCTTCAATCAAATGATAAAGAACAACGCCTGGTGGACCGCCTAGAAAACATGAGGAAGAACGTGGCTGGAGATGGGGTGAACCGCTGCATACTGTGTGGAGAACAGCTGGGGATGCTGGGCTCTGCCTGTGTAGTATGTGAGGACTGTAAGAAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGTGGAAGCGTTCTGGAGCGTGGTTCTTCAAAGGCTTCCCCAAACAGGTCCTCCCACAGCCTATGCCTATAAAGAAGACCAAGCCCCAGCAGCCTGTCAGTGAGCCTGCTGCCCCTGAACAGCCTGCTCCTGAGCCCAAGCACCCTGCCCGGGCTCCAGCTCGAGGTGACAGTGAAGATAGGAGGGGCCCGGGTCAGAAGACAGGCCCTGACCCAGCCTCTGCTCCCGGGCGAGGAAACTATGGGCCTCCCGTGCGCAGGGCCTCCGAGGCACGAATGAGCTCATCTAGCCGAGATTCAGAGAGCTGGGACCACAGTGGGGGTGCTGGAGACTCCAGCCGGAGCCCAGCAGGTTTGAGACGGGCCAACTCAGTCCAGGCCTCCAGACCTGCCCCAGGCTCGGTGCAGAGCCCAGCGCCACCTCAGCCTGGGCAGCCAGGGACCCCAGGAGGAAGCAGACCGGGTCCTGGGCCAGCAGGACGCTTTCCAGATCAGAAGCCAGAGGTGGCTCCGAGCGACCCTGGGACCACTGCCCCACCCCGAGAGGAGAGAACAGGGGGAGTCGGGGGCTACCCAGCAGTTGGAGCCAGAGAGGACCGAATGAGCCACCCCTCCGGACCCTATTCCCAAGCATCTGCAGCTGCCCCCCAGCCTGCTGCAGCCCGCCAGCCACCACCCCCAGAGGAGGAGGAAGAGGAAGCCAACAGCTACGATTCGGATGAAGCAACCACCCTGGGTGCCCTGGAATTCAGCCTTCTCTACGACCAGGACAACAGCTCCCTGCAGTGCACCATCATTAAGGCCAAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGTCCAACAAGCTTCGTACAAAAACTCTGCGGAATACCCGGAACCCCATCTGGAATGAGACCCTCGTGTATCACGGCATCACCGATGAGGACATGCAAAGGAAGACCCTCAGGATCTCCGTCTGTGATGAGGACAAATTTGGCCACAATGAATTTATTGGTGAGACCAGATTCTCCCTCAAGAAACTGAAGCCCAACCAGAGGAAGAATTTCAACATCTGCCTGGAGCGAGTGATTCCTATGAAACGTGCTGGGACCACCGGGTCAGCCCGAGGCATGGCCCTTTATGAGGAAGAGCAGGTGGAGCGTGTTGGTGACATCGAGGAGCGTGGCAAGATCCTGGTCTCCCTCATGTACAGCACACAGCAGGGAGGCCTCATTGTGGGCATCATACGCTGCGTGCACCTGGCTGCCATGGACGCTAATGGCTACTCAGACCCATTCGTCAAGCTCTGGCTGAAACCGGACATGGGAAAGAAGGCCAAACACAAGACTCAAATTAAAAAGAAAACCTTGAATCCCGAATTCAATGAGGAGTTTTTCTATGACATCAAACACAGTGACCTGGCAAAGAAGTCACTGGACATTTCAGTCTGGGACTATGACATCGGCAAGTCCAATGATTACATCGGAGGCTGCCAGCTGGGGATCTCTGCCAAGGGAGAGCGCTTAAAACACTGGTACGAGTGTCTGAAAAATAAAGACAAGAAGATAGAGCGCTGGCACCAGCTACAGAATGAGAACCACGTGTCAAGTGATTAG
Amino sequence
MTDTVFSNSSNRWMYPSDRPLQSNDKEQRLVDRLENMRKNVAGDGVNRCILCGEQLGMLGSACVVCEDCKKNVCTKCGVETNNRLHSVWLCKICIEQREVWKRSGAWFFKGFPKQVLPQPMPIKKTKPQQPVSEPAAPEQPAPEPKHPARAPARGDSEDRRGPGQKTGPDPASAPGRGNYGPPVRRASEARMSSSSRDSESWDHSGGAGDSSRSPAGLRRANSVQASRPAPGSVQSPAPPQPGQPGTPGGSRPGPGPAGRFPDQKPEVAPSDPGTTAPPREERTGGVGGYPAVGAREDRMSHPSGPYSQASAAAPQPAAARQPPPPEEEEEEANSYDSDEATTLGALEFSLLYDQDNSSLQCTIIKAKGLKPMDSNGLADPYVKLHLLPGASKSNKLRTKTLRNTRNPIWNETLVYHGITDEDMQRKTLRISVCDEDKFGHNEFIGETRFSLKKLKPNQRKNFNICLERVIPMKRAGTTGSARGMALYEEEQVERVGDIEERGKILVSLMYSTQQGGLIVGIIRCVHLAAMDANGYSDPFVKLWLKPDMGKKAKHKTQIKKKTLNPEFNEEFFYDIKHSDLAKKSLDISVWDYDIGKSNDYIGGCQLGISAKGERLKHWYECLKNKDKKIERWHQLQNENHVSSD*