SLC46A1 solute carrier family 46 member 1

Information
Symbol
SLC46A1
Type
protein-coding
Description
solute carrier family 46 member 1
Entrez Gene ID
113235
Genome
hg19
Position
chr17:26,721,661-26,733,230
Genome
hg38
Position
chr17:28,394,642-28,406,212
MIM
611672 OMIM
HGNC
HGNC:30521 HGNC
Ensembl
ENSG00000076351 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 30
Likely pathogenic 0 10
Benign 0 62
Likely benign 0 162
Conflicting classifications of pathogenicity 0 18
not provided 0 4
Uncertain significance 0 408
Ranking
ClinVar
0
0
70
576
14
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 G21
SYNONYM HCP1
SYNONYM HsPCFT
SYNONYM PCFT
SYNONYM hPCFT
MIM 611672 OMIM
HGNC HGNC:30521 HGNC
Ensembl ENSG00000076351 Ensembl
AllianceGenome HGNC:30521
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000612814.5 hg38 chr17 28,394,642 28,406,212 11,571
ENST00000618626.1 hg38 chr17 28,395,676 28,406,201 10,526
ENST00000612814.5 hg19 chr17 26,721,661 26,733,230 11,570
ENST00000618626.1 hg19 chr17 26,722,695 26,733,219 10,525
Genome browser