SNAPIN SNAP associated protein

Information
Symbol
SNAPIN
Type
protein-coding
Description
SNAP associated protein
Entrez Gene ID
23557
Genome
hg19
Position
chr1:153,631,179-153,634,328
Genome
hg38
Position
chr1:153,658,703-153,661,852
MIM
607007 OMIM
HGNC
HGNC:17145 HGNC
Ensembl
ENSG00000143553 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Uncertain significance 0 8
Ranking
ClinVar
0
0
0
10
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 :
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 BLOC1S7
SYNONYM BLOS7
SYNONYM BORCS3
SYNONYM SNAPAP
MIM 607007 OMIM
HGNC HGNC:17145 HGNC
Ensembl ENSG00000143553 Ensembl
AllianceGenome HGNC:17145
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000368685.6 hg38 chr1 153,658,703 153,661,852 3,150
ENST00000368685.6 hg19 chr1 153,631,179 153,634,328 3,150
Genome browser