ENST00000269051.9 RHBDL3

Information
Transcript ID
ENST00000269051.9
Genome
hg38
Position
chr17:32,265,832-32,324,659
Strand
+
CDS length
1,215
Amino acid length
405
Gene symbol
RHBDL3
Gene type
protein-coding
Gene description
rhomboid like 3
Gene Entrez Gene ID
162494
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
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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 32,265,832 32,266,300
2 32,267,902 32,267,925
3 32,284,659 32,284,817
4 32,288,792 32,289,016
5 32,294,294 32,294,442
6 32,298,092 32,298,204
7 32,305,341 32,305,441
8 32,316,232 32,316,292
9 32,320,958 32,324,659
CDS
Exon number Type Start Stop
1 CDS 32,266,190 32,266,300
2 CDS 32,267,902 32,267,925
3 CDS 32,284,659 32,284,817
4 CDS 32,288,792 32,289,016
5 CDS 32,294,294 32,294,442
6 CDS 32,298,092 32,298,204
7 CDS 32,305,341 32,305,441
8 CDS 32,316,232 32,316,292
9 CDS 32,320,958 32,321,229
Other genome
Genome Chromosome Start End Links
hg19 chr17 30,592,851 30,651,678 Link
CDS sequence
ATGGGCGAGCACCCCAGCCCGGGCCCCGCGGTGGCCGCCTGCGCCGAGGCGGAGCGCATCGAGGAGCTGGAACCCGAGGCCGAGGAGCGGCTGCCCGCGGCGCCGGAGGACCACTGGAAAGTCCTGTTTGATCAGTTTGACCCTGGGAACACAGGCTACATTAGCACAGGCAAGTTCCGGAGTCTTCTGGAGAGCCACAGCTCCAAGCTGGACCCGCACAAAAGGGAGGTCCTCCTGGCTCTTGCCGACAGCCACGCGGATGGGCAGATCGGCTACCAGGATTTTGTCAGCCTAATGAGCAACAAGCGTTCCAACAGCTTCCGCCAAGCCATCCTGCAGGGCAACCGCAGGCTAAGCAGCAAGGCCCTGCTGGAGGAGAAGGGGCTGAGCCTCTCGCAGCGACTTATCCGCCATGTGGCCTATGAGACCCTGCCCCGGGAAATTGACCGCAAGTGGTACTATGACAGCTACACCTGCTGCCCCCCACCCTGGTTCATGATCACAGTCACGCTGCTGGAGGTTGCCTTTTTCCTCTACAATGGGGTGTCACTAGGTCAATTTGTACTGCAGGTAACTCATCCACGTTACTTGAAGAACTCCCTGGTTTACCACCCACAGCTGCGAGCACAGGTTTGGCGCTACCTGACATACATCTTCATGCATGCAGGGATAGAACACCTGGGACTCAATGTGGTGCTGCAGCTGCTGGTGGGGGTGCCCCTGGAGATGGTGCATGGAGCCACCCGAATTGGGCTTGTCTACGTGGCCGGTGTTGTGGCAGGGTCCTTGGCAGTGTCTGTGGCTGACATGACCGCTCCAGTCGTGGGCTCTTCTGGAGGGGTGTATGCTCTCGTCTCTGCCCATCTGGCCAACATTGTCATGAACTGGTCAGGCATGAAGTGCCAGTTCAAGCTGCTGCGGATGGCTGTGGCCCTTATCTGTATGAGCATGGAGTTTGGGCGGGCCGTGTGGCTCCGCTTCCACCCGTCGGCCTATCCCCCGTGCCCTCACCCAAGCTTTGTGGCGCACTTGGGTGGCGTGGCCGTGGGCATCACCCTGGGCGTGGTGGTCCTGAGGAACTACGAGCAGAGGCTCCAGGACCAGTCACTGTGGTGGATTTTTGTGGCCATGTACACCGTCTTCGTGCTGTTCGCTGTCTTCTGGAACATCTTTGCCTACACCCTGCTGGACTTAAAGCTGCCGCCTCCCCCCTGA
Amino sequence
MGEHPSPGPAVAACAEAERIEELEPEAEERLPAAPEDHWKVLFDQFDPGNTGYISTGKFRSLLESHSSKLDPHKREVLLALADSHADGQIGYQDFVSLMSNKRSNSFRQAILQGNRRLSSKALLEEKGLSLSQRLIRHVAYETLPREIDRKWYYDSYTCCPPPWFMITVTLLEVAFFLYNGVSLGQFVLQVTHPRYLKNSLVYHPQLRAQVWRYLTYIFMHAGIEHLGLNVVLQLLVGVPLEMVHGATRIGLVYVAGVVAGSLAVSVADMTAPVVGSSGGVYALVSAHLANIVMNWSGMKCQFKLLRMAVALICMSMEFGRAVWLRFHPSAYPPCPHPSFVAHLGGVAVGITLGVVVLRNYEQRLQDQSLWWIFVAMYTVFVLFAVFWNIFAYTLLDLKLPPPP*