SSPN sarcospan

Information
Symbol
SSPN
Type
protein-coding
Description
sarcospan
Entrez Gene ID
8082
Genome
hg19
Position
chr12:26,348,506-26,387,710
Genome
hg38
Position
chr12:26,195,573-26,234,777
MIM
601599 OMIM
HGNC
HGNC:11322 HGNC
Ensembl
ENSG00000123096 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 2
not provided 1 0
Uncertain significance 0 38
Ranking
ClinVar
0
0
0
46
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 DAGA5
SYNONYM KRAG
SYNONYM NSPN
SYNONYM SPN1
SYNONYM SPN2
MIM 601599 OMIM
HGNC HGNC:11322 HGNC
Ensembl ENSG00000123096 Ensembl
AllianceGenome HGNC:11322
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000422622.3 hg38 chr12 26,195,340 26,234,779 39,440
ENST00000242729.7 hg38 chr12 26,195,573 26,234,777 39,205
ENST00000540266.5 hg38 chr12 26,134,967 26,231,146 96,180
ENST00000535504.1 hg38 chr12 26,195,673 26,252,920 57,248
ENST00000540266.5 hg19 chr12 26,287,900 26,384,079 96,180
ENST00000422622.3 hg19 chr12 26,348,273 26,387,712 39,440
ENST00000242729.7 hg19 chr12 26,348,506 26,387,710 39,205
ENST00000535504.1 hg19 chr12 26,348,606 26,405,853 57,248
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