MRPS12 mitochondrial ribosomal protein S12

Information
Symbol
MRPS12
Type
protein-coding
Description
mitochondrial ribosomal protein S12
Entrez Gene ID
6183
Genome
hg19
Position
chr19:39,421,594-39,423,802
Genome
hg38
Position
chr19:38,930,954-38,933,162
MIM
603021 OMIM
HGNC
HGNC:10380 HGNC
Ensembl
ENSG00000128626 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 18
Ranking
ClinVar
0
0
0
20
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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
TypeID
SYNONYM MPR-S12
SYNONYM MT-RPS12
SYNONYM RPMS12
SYNONYM RPS12
SYNONYM RPSM12
SYNONYM uS12m
MIM 603021 OMIM
HGNC HGNC:10380 HGNC
Ensembl ENSG00000128626 Ensembl
AllianceGenome HGNC:10380
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000308018.9 hg38 chr19 38,930,944 38,933,168 2,225
ENST00000407800.2 hg38 chr19 38,930,954 38,933,162 2,209
ENST00000402029.3 hg38 chr19 38,930,999 38,933,020 2,022
ENST00000308018.9 hg19 chr19 39,421,584 39,423,808 2,225
ENST00000407800.2 hg19 chr19 39,421,594 39,423,802 2,209
ENST00000402029.3 hg19 chr19 39,421,639 39,423,660 2,022
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