SRP72 signal recognition particle 72

Information
Symbol
SRP72
Type
protein-coding
Description
signal recognition particle 72
Entrez Gene ID
6731
Genome
hg19
Position
chr4:57,333,783-57,369,847
Genome
hg38
Position
chr4:56,467,617-56,503,681
MIM
602122 OMIM
HGNC
HGNC:11303 HGNC
Ensembl
ENSG00000174780 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 178
Likely benign 0 360
Conflicting classifications of pathogenicity 0 34
Uncertain significance 0 580
Ranking
ClinVar
0
0
184
904
2
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 BMFF
SYNONYM BMFS1
SYNONYM HEL103
MIM 602122 OMIM
HGNC HGNC:11303 HGNC
Ensembl ENSG00000174780 Ensembl
AllianceGenome HGNC:11303
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000642900.1 hg38 chr4 56,467,617 56,503,681 36,065
ENST00000504757.2 hg38 chr4 56,467,618 56,474,508 6,891
ENST00000510663.6 hg38 chr4 56,467,617 56,502,415 34,799
ENST00000510663.6 hg19 chr4 57,333,783 57,368,581 34,799
ENST00000642900.1 hg19 chr4 57,333,783 57,369,847 36,065
ENST00000504757.2 hg19 chr4 57,333,784 57,340,674 6,891
Genome browser