SLC25A3 solute carrier family 25 member 3

Information
Symbol
SLC25A3
Type
protein-coding
Description
solute carrier family 25 member 3
Entrez Gene ID
5250
Genome
hg19
Position
chr12:98,987,464-99,000,145
Genome
hg38
Position
chr12:98,593,686-98,606,367
MIM
600370 OMIM
HGNC
HGNC:10989 HGNC
Ensembl
ENSG00000075415 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 10
Likely pathogenic 0 8
Benign 0 44
Likely benign 0 162
Conflicting classifications of pathogenicity 0 10
Uncertain significance 0 144
Ranking
ClinVar
0
0
46
308
6
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 OK/SW-cl.48
SYNONYM PHC
SYNONYM PTP
SYNONYM PiC
MIM 600370 OMIM
HGNC HGNC:10989 HGNC
Ensembl ENSG00000075415 Ensembl
AllianceGenome HGNC:10989
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000547534.5 hg38 chr12 98,593,686 98,598,073 4,388
ENST00000228318.8 hg38 chr12 98,593,686 98,606,367 12,682
ENST00000548847.1 hg38 chr12 98,593,725 98,601,668 7,944
ENST00000401722.7 hg38 chr12 98,593,591 98,606,379 12,789
ENST00000551917.5 hg38 chr12 98,593,650 98,601,707 8,058
ENST00000552981.6 hg38 chr12 98,593,686 98,606,367 12,682
ENST00000551265.5 hg38 chr12 98,593,686 98,594,503 818
ENST00000549338.5 hg38 chr12 98,593,696 98,601,674 7,979
ENST00000188376.9 hg38 chr12 98,593,625 98,601,997 8,373
ENST00000401722.7 hg19 chr12 98,987,369 99,000,157 12,789
ENST00000188376.9 hg19 chr12 98,987,403 98,995,775 8,373
ENST00000551917.5 hg19 chr12 98,987,428 98,995,485 8,058
ENST00000551265.5 hg19 chr12 98,987,464 98,988,281 818
ENST00000547534.5 hg19 chr12 98,987,464 98,991,851 4,388
ENST00000228318.8 hg19 chr12 98,987,464 99,000,145 12,682
ENST00000552981.6 hg19 chr12 98,987,464 99,000,145 12,682
ENST00000549338.5 hg19 chr12 98,987,474 98,995,452 7,979
ENST00000548847.1 hg19 chr12 98,987,503 98,995,446 7,944
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