SAP18 Sin3A associated protein 18
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Uncertain significance | 0 | 10 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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10 |
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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
Search Word
Target data | : |
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 |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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Target data | : |
MGeND data only
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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 |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Search word | : | |
Filtering | : |
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 | 2HOR0202 |
SYNONYM | SAP18P |
MIM | 602949 OMIM |
HGNC | HGNC:10530 HGNC |
Ensembl | ENSG00000150459 Ensembl |
AllianceGenome | HGNC:10530 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000607003.5 | hg38 | chr13 | 21,140,578 | 21,149,082 | 8,505 |
ENST00000621421.4 | hg38 | chr13 | 21,140,514 | 21,149,084 | 8,571 |
ENST00000382533.9 | hg38 | chr13 | 21,140,119 | 21,149,097 | 8,979 |
ENST00000382533.9 | hg19 | chr13 | 21,714,258 | 21,723,236 | 8,979 |
ENST00000621421.4 | hg19 | chr13 | 21,714,653 | 21,723,223 | 8,571 |
ENST00000607003.5 | hg19 | chr13 | 21,714,717 | 21,723,221 | 8,505 |
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