S1PR3 sphingosine-1-phosphate receptor 3
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 4 |
Uncertain significance | 0 | 46 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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50 |
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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
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MGeND data only
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | C9orf108 |
SYNONYM | C9orf47 |
SYNONYM | EDG-3 |
SYNONYM | EDG3 |
SYNONYM | LPB3 |
SYNONYM | S1P3 |
SYNONYM | bA791O21.3 |
MIM | 601965 OMIM |
HGNC | HGNC:3167 HGNC |
Ensembl | ENSG00000213694 Ensembl |
AllianceGenome | HGNC:3167 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000358157.3 | hg38 | chr9 | 88,991,468 | 89,005,155 | 13,688 |
ENST00000375846.3 | hg38 | chr9 | 88,996,506 | 89,005,010 | 8,505 |
ENST00000358157.3 | hg19 | chr9 | 91,606,383 | 91,620,070 | 13,688 |
ENST00000375846.3 | hg19 | chr9 | 91,611,421 | 91,619,925 | 8,505 |
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