SLC38A1 solute carrier family 38 member 1

Information
Symbol
SLC38A1
Type
protein-coding
Description
solute carrier family 38 member 1
Entrez Gene ID
81539
Genome
hg19
Position
chr12:46,589,508-46,661,484
Genome
hg38
Position
chr12:46,195,725-46,267,701
MIM
608490 OMIM
HGNC
HGNC:13447 HGNC
Ensembl
ENSG00000111371 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Uncertain significance 0 28
Ranking
ClinVar
0
0
0
30
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 ATA1
SYNONYM NAT2
SYNONYM SAT1
SYNONYM SNAT1
MIM 608490 OMIM
HGNC HGNC:13447 HGNC
Ensembl ENSG00000111371 Ensembl
AllianceGenome HGNC:13447
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000546893.5 hg38 chr12 46,188,565 46,269,119 80,555
ENST00000549049.5 hg38 chr12 46,187,801 46,268,995 81,195
ENST00000612161.4 hg38 chr12 46,196,127 46,239,895 43,769
ENST00000552197.5 hg38 chr12 46,195,725 46,267,701 71,977
ENST00000439706.5 hg38 chr12 46,187,801 46,268,997 81,197
ENST00000398637.10 hg38 chr12 46,183,063 46,269,043 85,981
ENST00000398637.10 hg19 chr12 46,576,846 46,662,826 85,981
ENST00000549049.5 hg19 chr12 46,581,584 46,662,778 81,195
ENST00000439706.5 hg19 chr12 46,581,584 46,662,780 81,197
ENST00000546893.5 hg19 chr12 46,582,348 46,662,902 80,555
ENST00000552197.5 hg19 chr12 46,589,508 46,661,484 71,977
ENST00000612161.4 hg19 chr12 46,589,910 46,633,678 43,769
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