SLC5A1 solute carrier family 5 member 1

Information
Symbol
SLC5A1
Type
protein-coding
Description
solute carrier family 5 member 1
Entrez Gene ID
6523
Genome
hg19
Position
chr22:32,439,248-32,509,016
Genome
hg38
Position
chr22:32,043,261-32,113,029
MIM
182380 OMIM
HGNC
HGNC:11036 HGNC
Ensembl
ENSG00000100170 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 28
Likely pathogenic 0 20
Benign 0 78
Likely benign 0 322
Conflicting classifications of pathogenicity 0 40
Uncertain significance 0 350
Ranking
ClinVar
0
0
124
660
2
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 D22S675
SYNONYM NAGT
SYNONYM SGLT-1
SYNONYM SGLT1
MIM 182380 OMIM
HGNC HGNC:11036 HGNC
Ensembl ENSG00000100170 Ensembl
AllianceGenome HGNC:11036
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000266088.9 hg38 chr22 32,043,261 32,113,029 69,769
ENST00000543737.2 hg38 chr22 32,059,170 32,113,002 53,833
ENST00000266088.9 hg19 chr22 32,439,248 32,509,016 69,769
ENST00000543737.2 hg19 chr22 32,455,157 32,508,989 53,833
Genome browser