SPRR2D small proline rich protein 2D

Information
Symbol
SPRR2D
Type
protein-coding
Description
small proline rich protein 2D
Entrez Gene ID
6703
Genome
hg19
Position
chr1:153,012,304-153,014,407
Genome
hg38
Position
chr1:153,039,828-153,041,931
MIM
617587 OMIM
HGNC
HGNC:11264 HGNC
Ensembl
ENSG00000163216 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 8
Ranking
ClinVar
0
0
0
10
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 617587 OMIM
HGNC HGNC:11264 HGNC
Ensembl ENSG00000163216 Ensembl
AllianceGenome HGNC:11264
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000368757.1 hg38 chr1 153,039,828 153,041,931 2,104
ENST00000368758.3 hg38 chr1 153,039,744 153,041,931 2,188
ENST00000368756.1 hg38 chr1 153,039,848 153,041,928 2,081
ENST00000360379.4 hg38 chr1 153,039,732 153,041,120 1,389
ENST00000360379.4 hg19 chr1 153,012,208 153,013,596 1,389
ENST00000368758.3 hg19 chr1 153,012,220 153,014,407 2,188
ENST00000368757.1 hg19 chr1 153,012,304 153,014,407 2,104
ENST00000368756.1 hg19 chr1 153,012,324 153,014,404 2,081
Genome browser