ENST00000536287.2 RHBDL3

Information
Transcript ID
ENST00000536287.2
Genome
hg19
Position
chr17:30,594,823-30,651,675
Strand
+
CDS length
921
Amino acid length
307
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 30,594,823 30,594,944
2 30,615,811 30,616,035
3 30,621,313 30,621,461
4 30,625,111 30,625,223
5 30,632,360 30,632,460
6 30,643,251 30,643,311
7 30,647,977 30,651,675
CDS
Exon number Type Start Stop
2 CDS 30,615,811 30,616,035
3 CDS 30,621,313 30,621,461
4 CDS 30,625,111 30,625,223
5 CDS 30,632,360 30,632,460
6 CDS 30,643,251 30,643,311
7 CDS 30,647,977 30,648,248
Other genome
Genome Chromosome Start End Links
hg38 chr17 32,267,804 32,324,656 Link
CDS sequence
ATGAGCAACAAGCGTTCCAACAGCTTCCGCCAAGCCATCCTGCAGGGCAACCGCAGGCTAAGCAGCAAGGCCCTGCTGGAGGAGAAGGGGCTGAGCCTCTCGCAGCGACTTATCCGCCATGTGGCCTATGAGACCCTGCCCCGGGAAATTGACCGCAAGTGGTACTATGACAGCTACACCTGCTGCCCCCCACCCTGGTTCATGATCACAGTCACGCTGCTGGAGGTTGCCTTTTTCCTCTACAATGGGGTGTCACTAGGTCAATTTGTACTGCAGGTAACTCATCCACGTTACTTGAAGAACTCCCTGGTTTACCACCCACAGCTGCGAGCACAGGTTTGGCGCTACCTGACATACATCTTCATGCATGCAGGGATAGAACACCTGGGACTCAATGTGGTGCTGCAGCTGCTGGTGGGGGTGCCCCTGGAGATGGTGCATGGAGCCACCCGAATTGGGCTTGTCTACGTGGCCGGTGTTGTGGCAGGGTCCTTGGCAGTGTCTGTGGCTGACATGACCGCTCCAGTCGTGGGCTCTTCTGGAGGGGTGTATGCTCTCGTCTCTGCCCATCTGGCCAACATTGTCATGAACTGGTCAGGCATGAAGTGCCAGTTCAAGCTGCTGCGGATGGCTGTGGCCCTTATCTGTATGAGCATGGAGTTTGGGCGGGCCGTGTGGCTCCGCTTCCACCCGTCGGCCTATCCCCCGTGCCCTCACCCAAGCTTTGTGGCGCACTTGGGTGGCGTGGCCGTGGGCATCACCCTGGGCGTGGTGGTCCTGAGGAACTACGAGCAGAGGCTCCAGGACCAGTCACTGTGGTGGATTTTTGTGGCCATGTACACCGTCTTCGTGCTGTTCGCTGTCTTCTGGAACATCTTTGCCTACACCCTGCTGGACTTAAAGCTGCCGCCTCCCCCCTGA
Amino sequence
MSNKRSNSFRQAILQGNRRLSSKALLEEKGLSLSQRLIRHVAYETLPREIDRKWYYDSYTCCPPPWFMITVTLLEVAFFLYNGVSLGQFVLQVTHPRYLKNSLVYHPQLRAQVWRYLTYIFMHAGIEHLGLNVVLQLLVGVPLEMVHGATRIGLVYVAGVVAGSLAVSVADMTAPVVGSSGGVYALVSAHLANIVMNWSGMKCQFKLLRMAVALICMSMEFGRAVWLRFHPSAYPPCPHPSFVAHLGGVAVGITLGVVVLRNYEQRLQDQSLWWIFVAMYTVFVLFAVFWNIFAYTLLDLKLPPPP*