SCP2D1 SCP2 sterol binding domain containing 1

Information
Symbol
SCP2D1
Type
protein-coding
Description
SCP2 sterol binding domain containing 1
Entrez Gene ID
140856
Genome
hg19
Position
chr20:18,794,427-18,795,022
Genome
hg38
Position
chr20:18,813,783-18,814,378
HGNC
HGNC:16211 HGNC
Ensembl
ENSG00000132631 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 20
Ranking
ClinVar
0
0
0
22
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 C20orf79
SYNONYM HSD22
SYNONYM dJ1068E13.2
HGNC HGNC:16211 HGNC
Ensembl ENSG00000132631 Ensembl
AllianceGenome HGNC:16211
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000377428.4 hg38 chr20 18,813,783 18,814,378 596
ENST00000377428.4 hg19 chr20 18,794,427 18,795,022 596
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