SPRR2A small proline rich protein 2A

Information
Symbol
SPRR2A
Type
protein-coding
Description
small proline rich protein 2A
Entrez Gene ID
6700
Genome
hg19
Position
chr1:153,028,596-153,029,988
Genome
hg38
Position
chr1:153,056,120-153,057,512
MIM
182267 OMIM
HGNC
HGNC:11261 HGNC
Ensembl
ENSG00000241794 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Uncertain significance 0 6
Ranking
ClinVar
0
0
0
8
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 182267 OMIM
HGNC HGNC:11261 HGNC
Ensembl ENSG00000241794 Ensembl
AllianceGenome HGNC:11261
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000392653.3 hg38 chr1 153,056,120 153,057,512 1,393
ENST00000392653.3 hg19 chr1 153,028,596 153,029,988 1,393
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