SPRR2B small proline rich protein 2B

Information
Symbol
SPRR2B
Type
protein-coding
Description
small proline rich protein 2B
Entrez Gene ID
6701
Genome
hg19
Position
chr1:153,042,702-153,044,087
Genome
hg38
Position
chr1:153,070,226-153,071,611
MIM
182268 OMIM
HGNC
HGNC:11262 HGNC
Ensembl
ENSG00000196805 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 12
Ranking
ClinVar
0
0
0
14
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
MIM 182268 OMIM
HGNC HGNC:11262 HGNC
Ensembl ENSG00000196805 Ensembl
AllianceGenome HGNC:11262
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000368755.3 hg38 chr1 153,070,226 153,071,611 1,386
ENST00000368755.3 hg19 chr1 153,042,702 153,044,087 1,386
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