SLC5A2 solute carrier family 5 member 2

Information
Symbol
SLC5A2
Type
protein-coding
Description
solute carrier family 5 member 2
Entrez Gene ID
6524
Genome
hg19
Position
chr16:31,494,444-31,502,090
Genome
hg38
Position
chr16:31,483,123-31,490,769
MIM
182381 OMIM
HGNC
HGNC:11037 HGNC
Ensembl
ENSG00000140675 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 20
Likely pathogenic 0 30
Benign 0 16
Likely benign 0 32
Conflicting classifications of pathogenicity 0 10
Uncertain significance 0 260
Ranking
ClinVar
0
0
52
264
36
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 :
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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 SGLT2
MIM 182381 OMIM
HGNC HGNC:11037 HGNC
Ensembl ENSG00000140675 Ensembl
AllianceGenome HGNC:11037
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000330498.4 hg38 chr16 31,483,123 31,490,769 7,647
ENST00000330498.4 hg19 chr16 31,494,444 31,502,090 7,647
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