SYP synaptophysin

Information
Symbol
SYP
Type
protein-coding
Description
synaptophysin
Entrez Gene ID
6855
Genome
hg19
Position
chrX:49,044,268-49,056,652
Genome
hg38
Position
chrX:49,187,815-49,200,193
MIM
313475 OMIM
HGNC
HGNC:11506 HGNC
Ensembl
ENSG00000102003 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Likely pathogenic 0 8
Benign 0 6
Likely benign 0 20
Conflicting classifications of pathogenicity 0 12
not provided 6 0
Uncertain significance 0 68
Ranking
ClinVar
0
0
6
94
8
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 MRX96
SYNONYM MRXSYP
SYNONYM XLID96
MIM 313475 OMIM
HGNC HGNC:11506 HGNC
Ensembl ENSG00000102003 Ensembl
AllianceGenome HGNC:11506
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000263233.9 hg38 chrX 49,187,815 49,200,193 12,379
ENST00000479808.5 hg38 chrX 49,190,542 49,200,199 9,658
ENST00000263233.9 hg19 chrX 49,044,268 49,056,652 12,385
ENST00000479808.5 hg19 chrX 49,046,999 49,056,658 9,660
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