EME1 essential meiotic structure-specific endonuclease 1

Information
Symbol
EME1
Type
protein-coding
Description
essential meiotic structure-specific endonuclease 1
Entrez Gene ID
146956
Genome
hg19
Position
chr17:48,452,546-48,458,820
Genome
hg38
Position
chr17:50,375,185-50,381,459
MIM
610885 OMIM
HGNC
HGNC:24965 HGNC
Ensembl
ENSG00000154920 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 8
Uncertain significance 0 66
Ranking
ClinVar
0
0
0
76
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 :
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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
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 MMS4L
SYNONYM SLX2A
MIM 610885 OMIM
HGNC HGNC:24965 HGNC
Ensembl ENSG00000154920 Ensembl
AllianceGenome HGNC:24965
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000393271.6 hg38 chr17 50,373,220 50,381,459 8,240
ENST00000338165.9 hg38 chr17 50,373,229 50,381,483 8,255
ENST00000511648.6 hg38 chr17 50,375,185 50,381,459 6,275
ENST00000393271.6 hg19 chr17 48,450,581 48,458,820 8,240
ENST00000338165.9 hg19 chr17 48,450,590 48,458,844 8,255
ENST00000511648.6 hg19 chr17 48,452,546 48,458,820 6,275
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