ENST00000548866.5 RPH3A

Information
Transcript ID
ENST00000548866.5
Genome
hg19
Position
chr12:113,229,993-113,334,982
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
1 113,229,993 113,230,068
2 113,266,106 113,266,194
3 113,274,296 113,274,307
4 113,303,219 113,303,348
5 113,304,562 113,304,645
6 113,306,235 113,306,400
7 113,307,564 113,307,602
8 113,307,698 113,307,844
9 113,312,889 113,312,975
10 113,313,484 113,313,546
11 113,314,447 113,314,671
12 113,316,924 113,317,003
13 113,319,577 113,319,651
14 113,321,098 113,321,207
15 113,325,602 113,325,728
16 113,327,829 113,327,885
17 113,328,654 113,328,808
18 113,332,383 113,332,464
19 113,333,582 113,333,678
20 113,334,455 113,334,982
CDS
Exon number Type Start Stop
2 CDS 113,266,124 113,266,194
3 CDS 113,274,296 113,274,307
4 CDS 113,303,219 113,303,348
5 CDS 113,304,562 113,304,645
6 CDS 113,306,235 113,306,400
7 CDS 113,307,564 113,307,602
8 CDS 113,307,698 113,307,844
9 CDS 113,312,889 113,312,975
10 CDS 113,313,484 113,313,546
11 CDS 113,314,447 113,314,671
12 CDS 113,316,924 113,317,003
13 CDS 113,319,577 113,319,651
14 CDS 113,321,098 113,321,207
15 CDS 113,325,602 113,325,728
16 CDS 113,327,829 113,327,885
17 CDS 113,328,654 113,328,808
18 CDS 113,332,383 113,332,464
19 CDS 113,333,582 113,333,678
20 CDS 113,334,455 113,334,585
Other genome
Genome Chromosome Start End Links
hg38 chr12 112,792,188 112,897,177 Link
CDS sequence
ATGACTGACACCGTGTTCAGCAACAGTTCTAACCGTTGGATGTACCCCAGTGACCGGCCCCTTCAATCAAATGATAAAGAACAACGCCTGGTGGACCGCCTAGAAAACATGAGGAAGAACGTGGCTGGAGATGGGGTGAACCGCTGCATACTGTGTGGAGAACAGCTGGGGATGCTGGGCTCTGCCTGTGTAGTATGTGAGGACTGTAAGAAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGTGGAAGCGTTCTGGAGCGTGGTTCTTCAAAGGCTTCCCCAAACAGGTCCTCCCACAGCCTATGCCTATAAAGAAGACCAAGCCCCAGCAGCCTGTCAGTGAGCCTGCTGCCCCTGAACAGCCTGCTCCTGAGCCCAAGCACCCTGCCCGGGCTCCAGCTCGAGGTGACAGTGAAGATAGGAGGGGCCCGGGTCAGAAGACAGGCCCTGACCCAGCCTCTGCTCCCGGGCGAGGAAACTATGGGCCTCCCGTGCGCAGGGCCTCCGAGGCACGAATGAGCTCATCTAGCCGAGATTCAGAGAGCTGGGACCACAGTGGGGGTGCTGGAGACTCCAGCCGGAGCCCAGCAGGTTTGAGACGGGCCAACTCAGTCCAGGCCTCCAGACCTGCCCCAGGCTCGGTGCAGAGCCCAGCGCCACCTCAGCCTGGGCAGCCAGGGACCCCAGGAGGAAGCAGACCGGGTCCTGGGCCAGCAGGACGCTTTCCAGATCAGAAGCCAGAGGTGGCTCCGAGCGACCCTGGGACCACTGCCCCACCCCGAGAGGAGAGAACAGGGGGAGTCGGGGGCTACCCAGCAGTTGGAGCCAGAGAGGACCGAATGAGCCACCCCTCCGGACCCTATTCCCAAGCATCTGCAGCTGCCCCCCAGCCTGCTGCAGCCCGCCAGCCACCACCCCCAGAGGAGGAGGAAGAGGAAGCCAACAGCTACGATTCGGATGAAGCAACCACCCTGGGTGCCCTGGAATTCAGCCTTCTCTACGACCAGGACAACAGCTCCCTGCAGTGCACCATCATTAAGGCCAAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGTCCAACAAGCTTCGTACAAAAACTCTGCGGAATACCCGGAACCCCATCTGGAATGAGACCCTCGTGTATCACGGCATCACCGATGAGGACATGCAAAGGAAGACCCTCAGGATCTCCGTCTGTGATGAGGACAAATTTGGCCACAATGAATTTATTGGTGAGACCAGATTCTCCCTCAAGAAACTGAAGCCCAACCAGAGGAAGAATTTCAACATCTGCCTGGAGCGAGTGATTCCTATGAAACGTGCTGGGACCACCGGGTCAGCCCGAGGCATGGCCCTTTATGAGGAAGAGCAGGTGGAGCGTGTTGGTGACATCGAGGAGCGTGGCAAGATCCTGGTCTCCCTCATGTACAGCACACAGCAGGGAGGCCTCATTGTGGGCATCATACGCTGCGTGCACCTGGCTGCCATGGACGCTAATGGCTACTCAGACCCATTCGTCAAGCTCTGGCTGAAACCGGACATGGGAAAGAAGGCCAAACACAAGACTCAAATTAAAAAGAAAACCTTGAATCCCGAATTCAATGAGGAGTTTTTCTATGACATCAAACACAGTGACCTGGCAAAGAAGTCACTGGACATTTCAGTCTGGGACTATGACATCGGCAAGTCCAATGATTACATCGGAGGCTGCCAGCTGGGGATCTCTGCCAAGGGAGAGCGCTTAAAACACTGGTACGAGTGTCTGAAAAATAAAGACAAGAAGATAGAGCGCTGGCACCAGCTACAGAATGAGAACCACGTGTCAAGTGATTAG
Amino sequence
MTDTVFSNSSNRWMYPSDRPLQSNDKEQRLVDRLENMRKNVAGDGVNRCILCGEQLGMLGSACVVCEDCKKNVCTKCGVETNNRLHSVWLCKICIEQREVWKRSGAWFFKGFPKQVLPQPMPIKKTKPQQPVSEPAAPEQPAPEPKHPARAPARGDSEDRRGPGQKTGPDPASAPGRGNYGPPVRRASEARMSSSSRDSESWDHSGGAGDSSRSPAGLRRANSVQASRPAPGSVQSPAPPQPGQPGTPGGSRPGPGPAGRFPDQKPEVAPSDPGTTAPPREERTGGVGGYPAVGAREDRMSHPSGPYSQASAAAPQPAAARQPPPPEEEEEEANSYDSDEATTLGALEFSLLYDQDNSSLQCTIIKAKGLKPMDSNGLADPYVKLHLLPGASKSNKLRTKTLRNTRNPIWNETLVYHGITDEDMQRKTLRISVCDEDKFGHNEFIGETRFSLKKLKPNQRKNFNICLERVIPMKRAGTTGSARGMALYEEEQVERVGDIEERGKILVSLMYSTQQGGLIVGIIRCVHLAAMDANGYSDPFVKLWLKPDMGKKAKHKTQIKKKTLNPEFNEEFFYDIKHSDLAKKSLDISVWDYDIGKSNDYIGGCQLGISAKGERLKHWYECLKNKDKKIERWHQLQNENHVSSD*