SLC48A1 solute carrier family 48 member 1

Information
Symbol
SLC48A1
Type
protein-coding
Description
solute carrier family 48 member 1
Entrez Gene ID
55652
Genome
hg19
Position
chr12:48,167,021-48,176,534
Genome
hg38
Position
chr12:47,773,238-47,782,751
MIM
612187 OMIM
HGNC
HGNC:26035 HGNC
Ensembl
ENSG00000211584 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 20
Ranking
ClinVar
0
0
0
20
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 :
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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 HRG
SYNONYM HRG-1
SYNONYM HRG1
SYNONYM hHRG-1
MIM 612187 OMIM
HGNC HGNC:26035 HGNC
Ensembl ENSG00000211584 Ensembl
AllianceGenome HGNC:26035
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000442218.3 hg38 chr12 47,773,238 47,782,751 9,514
ENST00000442892.2 hg38 chr12 47,771,587 47,782,751 11,165
ENST00000547002.5 hg38 chr12 47,758,578 47,780,307 21,730
ENST00000547002.5 hg19 chr12 48,152,361 48,174,090 21,730
ENST00000442892.2 hg19 chr12 48,165,370 48,176,534 11,165
ENST00000442218.3 hg19 chr12 48,167,021 48,176,534 9,514
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