SKAP1 src kinase associated phosphoprotein 1

Information
Symbol
SKAP1
Type
protein-coding
Description
src kinase associated phosphoprotein 1
Entrez Gene ID
8631
Genome
hg19
Position
chr17:46,210,804-46,507,576
Genome
hg38
Position
chr17:48,133,442-48,430,214
MIM
604969 OMIM
HGNC
HGNC:15605 HGNC
Ensembl
ENSG00000141293 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 40
Ranking
ClinVar
0
0
0
40
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 :
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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 HEL-S-81p
SYNONYM SCAP1
SYNONYM SKAP55
MIM 604969 OMIM
HGNC HGNC:15605 HGNC
Ensembl ENSG00000141293 Ensembl
AllianceGenome HGNC:15605
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000336915.11 hg38 chr17 48,133,442 48,430,214 296,773
ENST00000584924.5 hg38 chr17 48,136,938 48,430,219 293,282
ENST00000336915.11 hg19 chr17 46,210,804 46,507,576 296,773
ENST00000584924.5 hg19 chr17 46,214,300 46,507,581 293,282
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