ENST00000551052.5 RPH3A

Information
Transcript ID
ENST00000551052.5
Genome
hg19
Position
chr12:113,229,742-113,335,258
Strand
+
CDS length
2,073
Amino acid length
691
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
1 113,229,742 113,229,817
2 113,229,948 113,230,068
3 113,266,106 113,266,194
4 113,285,501 113,285,647
5 113,303,219 113,303,348
6 113,304,562 113,304,645
7 113,306,235 113,306,400
8 113,307,564 113,307,602
9 113,307,698 113,307,844
10 113,312,889 113,312,975
11 113,313,484 113,313,546
12 113,314,447 113,314,671
13 113,316,924 113,317,003
14 113,319,577 113,319,651
15 113,321,098 113,321,207
16 113,325,602 113,325,728
17 113,327,829 113,327,885
18 113,328,654 113,328,808
19 113,332,383 113,332,464
20 113,333,582 113,333,678
21 113,334,455 113,335,258
CDS
Exon number Type Start Stop
3 CDS 113,266,124 113,266,194
4 CDS 113,285,501 113,285,647
5 CDS 113,303,219 113,303,348
6 CDS 113,304,562 113,304,645
7 CDS 113,306,235 113,306,400
8 CDS 113,307,564 113,307,602
9 CDS 113,307,698 113,307,844
10 CDS 113,312,889 113,312,975
11 CDS 113,313,484 113,313,546
12 CDS 113,314,447 113,314,671
13 CDS 113,316,924 113,317,003
14 CDS 113,319,577 113,319,651
15 CDS 113,321,098 113,321,207
16 CDS 113,325,602 113,325,728
17 CDS 113,327,829 113,327,885
18 CDS 113,328,654 113,328,808
19 CDS 113,332,383 113,332,464
20 CDS 113,333,582 113,333,678
21 CDS 113,334,455 113,334,585
Other genome
Genome Chromosome Start End Links
hg38 chr12 112,791,937 112,897,453 Link
CDS sequence
ATGACTGACACCGTGTTCAGCAACAGTTCTAACCGTTGGATGTACCCCAGTGACCGGCCCCTTCAATCAAAGCTCCAGGCAGGCTGGTCCGTCCACCCCGGTGGTCAGCCTGACAGGCAGAGGAAGCAGGAAGAGCTGACTGATGAGGAGAAAGAAATCATCAACAGGGTGATTGCTCGAGCTGAGAAAATGGAAGAGATGGAGCAGGAGCGAATCGGACGCCTGGTGGACCGCCTAGAAAACATGAGGAAGAACGTGGCTGGAGATGGGGTGAACCGCTGCATACTGTGTGGAGAACAGCTGGGGATGCTGGGCTCTGCCTGTGTAGTATGTGAGGACTGTAAGAAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGTGGAAGCGTTCTGGAGCGTGGTTCTTCAAAGGCTTCCCCAAACAGGTCCTCCCACAGCCTATGCCTATAAAGAAGACCAAGCCCCAGCAGCCTGTCAGTGAGCCTGCTGCCCCTGAACAGCCTGCTCCTGAGCCCAAGCACCCTGCCCGGGCTCCAGCTCGAGGTGACAGTGAAGATAGGAGGGGCCCGGGTCAGAAGACAGGCCCTGACCCAGCCTCTGCTCCCGGGCGAGGAAACTATGGGCCTCCCGTGCGCAGGGCCTCCGAGGCACGAATGAGCTCATCTAGCCGAGATTCAGAGAGCTGGGACCACAGTGGGGGTGCTGGAGACTCCAGCCGGAGCCCAGCAGGTTTGAGACGGGCCAACTCAGTCCAGGCCTCCAGACCTGCCCCAGGCTCGGTGCAGAGCCCAGCGCCACCTCAGCCTGGGCAGCCAGGGACCCCAGGAGGAAGCAGACCGGGTCCTGGGCCAGCAGGACGCTTTCCAGATCAGAAGCCAGAGGTGGCTCCGAGCGACCCTGGGACCACTGCCCCACCCCGAGAGGAGAGAACAGGGGGAGTCGGGGGCTACCCAGCAGTTGGAGCCAGAGAGGACCGAATGAGCCACCCCTCCGGACCCTATTCCCAAGCATCTGCAGCTGCCCCCCAGCCTGCTGCAGCCCGCCAGCCACCACCCCCAGAGGAGGAGGAAGAGGAAGCCAACAGCTACGATTCGGATGAAGCAACCACCCTGGGTGCCCTGGAATTCAGCCTTCTCTACGACCAGGACAACAGCTCCCTGCAGTGCACCATCATTAAGGCCAAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGTCCAACAAGCTTCGTACAAAAACTCTGCGGAATACCCGGAACCCCATCTGGAATGAGACCCTCGTGTATCACGGCATCACCGATGAGGACATGCAAAGGAAGACCCTCAGGATCTCCGTCTGTGATGAGGACAAATTTGGCCACAATGAATTTATTGGTGAGACCAGATTCTCCCTCAAGAAACTGAAGCCCAACCAGAGGAAGAATTTCAACATCTGCCTGGAGCGAGTGATTCCTATGAAACGTGCTGGGACCACCGGGTCAGCCCGAGGCATGGCCCTTTATGAGGAAGAGCAGGTGGAGCGTGTTGGTGACATCGAGGAGCGTGGCAAGATCCTGGTCTCCCTCATGTACAGCACACAGCAGGGAGGCCTCATTGTGGGCATCATACGCTGCGTGCACCTGGCTGCCATGGACGCTAATGGCTACTCAGACCCATTCGTCAAGCTCTGGCTGAAACCGGACATGGGAAAGAAGGCCAAACACAAGACTCAAATTAAAAAGAAAACCTTGAATCCCGAATTCAATGAGGAGTTTTTCTATGACATCAAACACAGTGACCTGGCAAAGAAGTCACTGGACATTTCAGTCTGGGACTATGACATCGGCAAGTCCAATGATTACATCGGAGGCTGCCAGCTGGGGATCTCTGCCAAGGGAGAGCGCTTAAAACACTGGTACGAGTGTCTGAAAAATAAAGACAAGAAGATAGAGCGCTGGCACCAGCTACAGAATGAGAACCACGTGTCAAGTGATTAG
Amino sequence
MTDTVFSNSSNRWMYPSDRPLQSKLQAGWSVHPGGQPDRQRKQEELTDEEKEIINRVIARAEKMEEMEQERIGRLVDRLENMRKNVAGDGVNRCILCGEQLGMLGSACVVCEDCKKNVCTKCGVETNNRLHSVWLCKICIEQREVWKRSGAWFFKGFPKQVLPQPMPIKKTKPQQPVSEPAAPEQPAPEPKHPARAPARGDSEDRRGPGQKTGPDPASAPGRGNYGPPVRRASEARMSSSSRDSESWDHSGGAGDSSRSPAGLRRANSVQASRPAPGSVQSPAPPQPGQPGTPGGSRPGPGPAGRFPDQKPEVAPSDPGTTAPPREERTGGVGGYPAVGAREDRMSHPSGPYSQASAAAPQPAAARQPPPPEEEEEEANSYDSDEATTLGALEFSLLYDQDNSSLQCTIIKAKGLKPMDSNGLADPYVKLHLLPGASKSNKLRTKTLRNTRNPIWNETLVYHGITDEDMQRKTLRISVCDEDKFGHNEFIGETRFSLKKLKPNQRKNFNICLERVIPMKRAGTTGSARGMALYEEEQVERVGDIEERGKILVSLMYSTQQGGLIVGIIRCVHLAAMDANGYSDPFVKLWLKPDMGKKAKHKTQIKKKTLNPEFNEEFFYDIKHSDLAKKSLDISVWDYDIGKSNDYIGGCQLGISAKGERLKHWYECLKNKDKKIERWHQLQNENHVSSD*