SRP54 signal recognition particle 54

Information
Symbol
SRP54
Type
protein-coding
Description
signal recognition particle 54
Entrez Gene ID
6729
Genome
hg19
Position
chr14:35,451,163-35,498,773
Genome
hg38
Position
chr14:34,981,957-35,029,567
MIM
604857 OMIM
HGNC
HGNC:11301 HGNC
Ensembl
ENSG00000100883 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Likely pathogenic 0 6
Benign 0 76
Likely benign 0 248
Conflicting classifications of pathogenicity 0 8
Uncertain significance 0 152
Ranking
ClinVar
0
0
26
442
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 SCN8
MIM 604857 OMIM
HGNC HGNC:11301 HGNC
Ensembl ENSG00000100883 Ensembl
AllianceGenome HGNC:11301
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000216774.11 hg38 chr14 34,982,992 35,029,567 46,576
ENST00000556994.5 hg38 chr14 34,981,957 35,029,567 47,611
ENST00000555557.5 hg38 chr14 34,983,025 35,029,454 46,430
ENST00000555746.6 hg38 chr14 34,982,691 35,029,554 46,864
ENST00000546080.6 hg38 chr14 34,982,682 35,029,553 46,872
ENST00000678963.1 hg38 chr14 34,982,701 35,029,554 46,854
ENST00000677647.1 hg38 chr14 34,993,247 35,029,686 36,440
ENST00000678627.1 hg38 chr14 34,982,984 35,029,553 46,570
ENST00000556994.5 hg19 chr14 35,451,163 35,498,773 47,611
ENST00000546080.6 hg19 chr14 35,451,888 35,498,759 46,872
ENST00000555746.6 hg19 chr14 35,451,897 35,498,760 46,864
ENST00000216774.11 hg19 chr14 35,452,198 35,498,773 46,576
ENST00000555557.5 hg19 chr14 35,452,231 35,498,660 46,430
ENST00000677647.1 hg19 chr14 35,462,453 35,498,892 36,440
ENST00000678627.1 hg19 chr14 35,452,190 35,498,759 46,570
ENST00000678963.1 hg19 chr14 35,451,907 35,498,760 46,854
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