SLC50A1 solute carrier family 50 member 1

Information
Symbol
SLC50A1
Type
protein-coding
Description
solute carrier family 50 member 1
Entrez Gene ID
55974
Genome
hg19
Position
chr1:155,108,328-155,111,329
Genome
hg38
Position
chr1:155,135,852-155,138,853
MIM
613683 OMIM
HGNC
HGNC:30657 HGNC
Ensembl
ENSG00000169241 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely 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
SYNONYM HsSWEET1
SYNONYM RAG1AP1
SYNONYM SCP
SYNONYM SWEET1
SYNONYM slv
MIM 613683 OMIM
HGNC HGNC:30657 HGNC
Ensembl ENSG00000169241 Ensembl
AllianceGenome HGNC:30657
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000368404.9 hg38 chr1 155,135,852 155,138,853 3,002
ENST00000368401.6 hg38 chr1 155,135,812 155,138,857 3,046
ENST00000484157.5 hg38 chr1 155,135,344 155,138,368 3,025
ENST00000622581.4 hg38 chr1 155,135,812 155,138,857 3,046
ENST00000303343.12 hg38 chr1 155,135,850 155,138,852 3,003
ENST00000484157.5 hg19 chr1 155,107,820 155,110,844 3,025
ENST00000368401.6 hg19 chr1 155,108,288 155,111,333 3,046
ENST00000622581.4 hg19 chr1 155,108,288 155,111,333 3,046
ENST00000303343.12 hg19 chr1 155,108,326 155,111,328 3,003
ENST00000368404.9 hg19 chr1 155,108,328 155,111,329 3,002
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