ENST00000398483.7 MRPL48

Information
Transcript ID
ENST00000398483.7
Genome
hg19
Position
chr11:73,498,951-73,575,650
Strand
+
CDS length
342
Amino acid length
114
Gene symbol
MRPL48
Gene type
protein-coding
Gene description
mitochondrial ribosomal protein L48
Gene Entrez Gene ID
51642
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 73,498,951 73,499,037
2 73,500,380 73,500,535
3 73,516,072 73,516,124
4 73,536,753 73,536,841
5 73,555,852 73,556,021
6 73,570,952 73,571,054
7 73,574,217 73,574,306
8 73,575,341 73,575,650
CDS
Exon number Type Start Stop
5 CDS 73,555,948 73,556,021
6 CDS 73,570,952 73,571,054
7 CDS 73,574,217 73,574,306
8 CDS 73,575,341 73,575,415
Other genome
Genome Chromosome Start End Links
hg38 chr11 73,787,906 73,864,605 Link
CDS sequence
ATGACCCTGGCAGAGAGTTATGCCCAGTATGTTCACAACCTCTGCAACTCTCTCTCCATTAAAGTCGAGGAAAGTTATGCAATGCCAACCAAAACCATAGAAGTGTTGCAGTTGCAGGACCAAGGCAGCAAAATGCTCCTGGACTCAGTGCTTACCACCCATGAGCGAGTGGTTCAGATCAGCGGTTTGAGTGCTACGTTTGCAGAAATTTTCTTGGAAATAATCCAAAGCAGTCTTCCTGAAGGAGTCAGACTGTCAGTGAAGGAGCACACTGAAGAAGACTTCAAGGGACGATTCAAAGCTCGACCAGAACTGGAAGAACTGTTGGCCAAGTTGAAGTAG
Amino sequence
MTLAESYAQYVHNLCNSLSIKVEESYAMPTKTIEVLQLQDQGSKMLLDSVLTTHERVVQISGLSATFAEIFLEIIQSSLPEGVRLSVKEHTEEDFKGRFKARPELEELLAKLK*