SNAP47 synaptosome associated protein 47

Information
Symbol
SNAP47
Type
protein-coding
Description
synaptosome associated protein 47
Entrez Gene ID
116841
Genome
hg19
Position
chr1:227,916,300-227,969,522
Genome
hg38
Position
chr1:227,728,599-227,781,821
MIM
619659 OMIM
HGNC
HGNC:30669 HGNC
Ensembl
ENSG00000143740 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 10
Uncertain significance 0 138
Ranking
ClinVar
0
0
0
150
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 C1orf142
SYNONYM ESFI5812
SYNONYM HEL-S-290
SYNONYM HEL170
SYNONYM SNAP-47
SYNONYM SVAP1
MIM 619659 OMIM
HGNC HGNC:30669 HGNC
Ensembl ENSG00000143740 Ensembl
AllianceGenome HGNC:30669
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000315781.10 hg38 chr1 227,735,005 227,781,208 46,204
ENST00000478768.3 hg38 chr1 227,735,435 227,770,744 35,310
ENST00000418653.6 hg38 chr1 227,735,431 227,776,970 41,540
ENST00000681447.1 hg38 chr1 227,728,686 227,781,821 53,136
ENST00000680854.1 hg38 chr1 227,728,635 227,781,821 53,187
ENST00000681242.1 hg38 chr1 227,735,005 227,769,516 34,512
ENST00000679575.1 hg38 chr1 227,728,599 227,781,821 53,223
ENST00000680992.1 hg38 chr1 227,728,688 227,781,821 53,134
ENST00000681929.1 hg38 chr1 227,735,435 227,781,208 45,774
ENST00000680695.1 hg38 chr1 227,728,707 227,781,208 52,502
ENST00000680202.1 hg38 chr1 227,735,681 227,781,821 46,141
ENST00000426344.6 hg38 chr1 227,735,436 227,776,969 41,534
ENST00000617596.5 hg38 chr1 227,735,435 227,781,226 45,792
ENST00000681685.1 hg38 chr1 227,735,005 227,780,833 45,829
ENST00000681149.1 hg38 chr1 227,735,428 227,781,821 46,394
ENST00000681006.1 hg38 chr1 227,728,641 227,776,934 48,294
ENST00000366759.9 hg38 chr1 227,734,996 227,781,226 46,231
ENST00000681827.1 hg38 chr1 227,728,200 227,781,821 53,622
ENST00000679561.1 hg38 chr1 227,735,685 227,781,208 45,524
ENST00000366760.5 hg38 chr1 227,728,657 227,781,226 52,570
ENST00000315781.10 hg19 chr1 227,922,706 227,968,909 46,204
ENST00000366759.9 hg19 chr1 227,922,697 227,968,927 46,231
ENST00000366760.5 hg19 chr1 227,916,358 227,968,927 52,570
ENST00000418653.6 hg19 chr1 227,923,132 227,964,671 41,540
ENST00000426344.6 hg19 chr1 227,923,137 227,964,670 41,534
ENST00000478768.3 hg19 chr1 227,923,136 227,958,445 35,310
ENST00000680992.1 hg19 chr1 227,916,389 227,969,522 53,134
ENST00000680695.1 hg19 chr1 227,916,408 227,968,909 52,502
ENST00000681006.1 hg19 chr1 227,916,342 227,964,635 48,294
ENST00000681149.1 hg19 chr1 227,923,129 227,969,522 46,394
ENST00000679561.1 hg19 chr1 227,923,386 227,968,909 45,524
ENST00000680202.1 hg19 chr1 227,923,382 227,969,522 46,141
ENST00000680854.1 hg19 chr1 227,916,336 227,969,522 53,187
ENST00000617596.5 hg19 chr1 227,923,136 227,968,927 45,792
ENST00000679575.1 hg19 chr1 227,916,300 227,969,522 53,223
ENST00000681242.1 hg19 chr1 227,922,706 227,957,217 34,512
ENST00000681827.1 hg19 chr1 227,915,901 227,969,522 53,622
ENST00000681447.1 hg19 chr1 227,916,387 227,969,522 53,136
ENST00000681685.1 hg19 chr1 227,922,706 227,968,534 45,829
ENST00000681929.1 hg19 chr1 227,923,136 227,968,909 45,774
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