SLC5A6 solute carrier family 5 member 6

Information
Symbol
SLC5A6
Type
protein-coding
Description
solute carrier family 5 member 6
Entrez Gene ID
8884
Genome
hg19
Position
chr2:27,422,455-27,435,136
Genome
hg38
Position
chr2:27,199,587-27,212,268
MIM
604024 OMIM
HGNC
HGNC:11041 HGNC
Ensembl
ENSG00000138074 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 14
Likely pathogenic 0 10
Benign 0 12
Likely benign 0 34
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 76
Ranking
ClinVar
0
0
10
130
4
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 COMNB
SYNONYM NERIB
SYNONYM SMVT
SYNONYM SMVTD
SYNONYM hSMVT
MIM 604024 OMIM
HGNC HGNC:11041 HGNC
Ensembl ENSG00000138074 Ensembl
AllianceGenome HGNC:11041
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000408041.5 hg38 chr2 27,200,436 27,211,752 11,317
ENST00000310574.8 hg38 chr2 27,199,587 27,212,268 12,682
ENST00000310574.8 hg19 chr2 27,422,455 27,435,136 12,682
ENST00000408041.5 hg19 chr2 27,423,304 27,434,620 11,317
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