ENST00000258105.8 MRPL53

Information
Transcript ID
ENST00000258105.8
Genome
hg38
Position
chr2:74,471,982-74,472,680
Strand
-
CDS length
339
Amino acid length
113
Gene symbol
MRPL53
Gene type
protein-coding
Gene description
mitochondrial ribosomal protein L53
Gene Entrez Gene ID
116540
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
3 74,471,982 74,472,252
2 74,472,358 74,472,470
1 74,472,569 74,472,680
CDS
Exon number Type Start Stop
3 CDS 74,472,119 74,472,252
2 CDS 74,472,358 74,472,470
1 CDS 74,472,569 74,472,660
Other genome
Genome Chromosome Start End Links
hg19 chr2 74,699,109 74,699,807 Link
CDS sequence
ATGGCAGCTGCCTTGGCTCGGCTTGGTCTGCGGCCTGTCAAACAGGTTCGGGTTCAGTTCTGTCCCTTCGAGAAAAACGTGGAATCGACGAGGACCTTCCTGCAGACGGTGAGCAGTGAGAAGGTCCGCTCCACTAATCTCAACTGCTCAGTGATTGCGGACGTGAGGCATGACGGCTCCGAGCCCTGCGTGGACGTGCTGTTCGGAGACGGGCATCGCCTGATTATGCGCGGCGCTCATCTCACCGCTCTGGAAATGCTCACCGCCTTCGCCTCCCACATCCGGGCCAGGGACGCGGCGGGCAGCGGGGACAAGCCGGGCGCTGATACTGGTCGCTGA
Amino sequence
MAAALARLGLRPVKQVRVQFCPFEKNVESTRTFLQTVSSEKVRSTNLNCSVIADVRHDGSEPCVDVLFGDGHRLIMRGAHLTALEMLTAFASHIRARDAAGSGDKPGADTGR*