SPATA2 spermatogenesis associated 2

Information
Symbol
SPATA2
Type
protein-coding
Description
spermatogenesis associated 2
Entrez Gene ID
9825
Genome
hg19
Position
chr20:48,519,928-48,532,066
Genome
hg38
Position
chr20:49,903,391-49,915,529
MIM
607662 OMIM
HGNC
HGNC:14681 HGNC
Ensembl
ENSG00000158480 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
not provided 1 0
Uncertain significance 0 88
Ranking
ClinVar
0
0
0
92
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
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 PD1
SYNONYM PPP1R145
SYNONYM tamo
MIM 607662 OMIM
HGNC HGNC:14681 HGNC
Ensembl ENSG00000158480 Ensembl
AllianceGenome HGNC:14681
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000422556.1 hg38 chr20 49,903,394 49,913,739 10,346
ENST00000289431.10 hg38 chr20 49,903,391 49,915,529 12,139
ENST00000289431.10 hg19 chr20 48,519,928 48,532,066 12,139
ENST00000422556.1 hg19 chr20 48,519,931 48,530,276 10,346
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