SLC25A30 solute carrier family 25 member 30

Information
Symbol
SLC25A30
Type
protein-coding
Description
solute carrier family 25 member 30
Entrez Gene ID
253512
Genome
hg19
Position
chr13:45,967,451-45,992,508
Genome
hg38
Position
chr13:45,393,316-45,418,373
MIM
610793 OMIM
HGNC
HGNC:27371 HGNC
Ensembl
ENSG00000174032 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 22
Ranking
ClinVar
0
0
0
22
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 KMCP1
MIM 610793 OMIM
HGNC HGNC:27371 HGNC
Ensembl ENSG00000174032 Ensembl
AllianceGenome HGNC:27371
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000539591.5 hg38 chr13 45,393,334 45,418,455 25,122
ENST00000519676.6 hg38 chr13 45,393,316 45,418,373 25,058
ENST00000519676.6 hg19 chr13 45,967,451 45,992,508 25,058
ENST00000539591.5 hg19 chr13 45,967,469 45,992,590 25,122
Genome browser