SHPK sedoheptulokinase

Information
Symbol
SHPK
Type
protein-coding
Description
sedoheptulokinase
Entrez Gene ID
23729
Genome
hg19
Position
chr17:3,511,534-3,539,544
Genome
hg38
Position
chr17:3,608,240-3,636,250
MIM
605060 OMIM
HGNC
HGNC:1492 HGNC
Ensembl
ENSG00000197417 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 19
Likely benign 0 116
Affects 0 2
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 213
Ranking
ClinVar
0
0
48
298
2
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 CARKL
SYNONYM SHK
MIM 605060 OMIM
HGNC HGNC:1492 HGNC
Ensembl ENSG00000197417 Ensembl
AllianceGenome HGNC:1492
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000225519.5 hg38 chr17 3,608,240 3,636,250 28,011
ENST00000225519.5 hg19 chr17 3,511,534 3,539,544 28,011
Genome browser