ENST00000310614.12 MRPL48

Information
Transcript ID
ENST00000310614.12
Genome
hg38
Position
chr11:73,787,874-73,865,133
Strand
+
CDS length
639
Amino acid length
213
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 73,787,874 73,787,992
2 73,805,027 73,805,079
3 73,808,313 73,808,350
4 73,825,708 73,825,796
5 73,844,807 73,844,976
6 73,859,907 73,860,009
7 73,863,172 73,863,261
8 73,864,296 73,865,133
CDS
Exon number Type Start Stop
1 CDS 73,787,972 73,787,992
2 CDS 73,805,027 73,805,079
3 CDS 73,808,313 73,808,350
4 CDS 73,825,708 73,825,796
5 CDS 73,844,807 73,844,976
6 CDS 73,859,907 73,860,009
7 CDS 73,863,172 73,863,261
8 CDS 73,864,296 73,864,370
Other genome
Genome Chromosome Start End Links
hg19 chr11 73,498,919 73,576,178 Link
CDS sequence
ATGAGCGGAACCTTGGAAAAGGTGCTGTGCCTGAGGAACAATACCATTTTTAAGCAAGCCTTTTCTCTCTTAAGGTTTAGAACTTCAGGAGAGAAGCCCATCTATTCTGTAGGTGGAATTCTACTAAGTATCAGTCGGCCCTACAAGACAAAGCCCACCCACGGCATTGGAAAGTACAAGCACTTAATTAAAGCAGAAGAGCCCAAGAAGAAGAAGGGAAAAGTGGAAGTGAGAGCCATTAATTTGGGGACAGATTATGAATATGGGGTTTTAAATATTCATCTGACTGCATATGATATGACCCTGGCAGAGAGTTATGCCCAGTATGTTCACAACCTCTGCAACTCTCTCTCCATTAAAGTCGAGGAAAGTTATGCAATGCCAACCAAAACCATAGAAGTGTTGCAGTTGCAGGACCAAGGCAGCAAAATGCTCCTGGACTCAGTGCTTACCACCCATGAGCGAGTGGTTCAGATCAGCGGTTTGAGTGCTACGTTTGCAGAAATTTTCTTGGAAATAATCCAAAGCAGTCTTCCTGAAGGAGTCAGACTGTCAGTGAAGGAGCACACTGAAGAAGACTTCAAGGGACGATTCAAAGCTCGACCAGAACTGGAAGAACTGTTGGCCAAGTTGAAGTAG
Amino sequence
MSGTLEKVLCLRNNTIFKQAFSLLRFRTSGEKPIYSVGGILLSISRPYKTKPTHGIGKYKHLIKAEEPKKKKGKVEVRAINLGTDYEYGVLNIHLTAYDMTLAESYAQYVHNLCNSLSIKVEESYAMPTKTIEVLQLQDQGSKMLLDSVLTTHERVVQISGLSATFAEIFLEIIQSSLPEGVRLSVKEHTEEDFKGRFKARPELEELLAKLK*