ELSPBP1 epididymal sperm binding protein 1

Information
Symbol
ELSPBP1
Type
protein-coding
Description
epididymal sperm binding protein 1
Entrez Gene ID
64100
Genome
hg19
Position
chr19:48,497,889-48,528,411
Genome
hg38
Position
chr19:47,994,632-48,025,154
MIM
607443 OMIM
HGNC
HGNC:14417 HGNC
Ensembl
ENSG00000169393 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 24
Ranking
ClinVar
0
0
0
24
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 :
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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 E12
SYNONYM EDDM12
SYNONYM EL149
SYNONYM HE12
MIM 607443 OMIM
HGNC HGNC:14417 HGNC
Ensembl ENSG00000169393 Ensembl
AllianceGenome HGNC:14417
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000339841.7 hg38 chr19 47,994,632 48,025,154 30,523
ENST00000597519.5 hg38 chr19 47,994,709 48,025,153 30,445
ENST00000339841.7 hg19 chr19 48,497,889 48,528,411 30,523
ENST00000597519.5 hg19 chr19 48,497,966 48,528,410 30,445
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