SNU13 small nuclear ribonucleoprotein 13
Information
Clinical Significance
MGeND | ClinVar |
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Ranking
ClinVar | |
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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 |
Search Word
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 | 15.5K |
SYNONYM | FA-1 |
SYNONYM | FA1 |
SYNONYM | NHP2L1 |
SYNONYM | NHPX |
SYNONYM | OTK27 |
SYNONYM | SNRNP15-5 |
SYNONYM | SPAG12 |
SYNONYM | SSFA1 |
MIM | 601304 OMIM |
HGNC | HGNC:7819 HGNC |
Ensembl | ENSG00000100138 Ensembl |
AllianceGenome | HGNC:7819 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000463675.6 | hg38 | chr22 | 41,674,789 | 41,688,804 | 14,016 |
ENST00000402458.1 | hg38 | chr22 | 41,674,925 | 41,690,504 | 15,580 |
ENST00000469522.1 | hg38 | chr22 | 41,687,742 | 41,688,847 | 1,106 |
ENST00000215956.10 | hg38 | chr22 | 41,674,707 | 41,682,622 | 7,916 |
ENST00000648674.1 | hg38 | chr22 | 41,674,615 | 41,688,895 | 14,281 |
ENST00000401959.6 | hg38 | chr22 | 41,673,933 | 41,688,867 | 14,935 |
ENST00000649479.1 | hg38 | chr22 | 41,674,817 | 41,688,825 | 14,009 |
ENST00000648350.1 | hg38 | chr22 | 41,674,817 | 41,690,462 | 15,646 |
ENST00000401959.6 | hg19 | chr22 | 42,069,937 | 42,084,871 | 14,935 |
ENST00000648674.1 | hg19 | chr22 | 42,070,619 | 42,084,899 | 14,281 |
ENST00000215956.10 | hg19 | chr22 | 42,070,711 | 42,078,626 | 7,916 |
ENST00000463675.6 | hg19 | chr22 | 42,070,793 | 42,084,808 | 14,016 |
ENST00000649479.1 | hg19 | chr22 | 42,070,821 | 42,084,829 | 14,009 |
ENST00000648350.1 | hg19 | chr22 | 42,070,821 | 42,086,466 | 15,646 |
ENST00000402458.1 | hg19 | chr22 | 42,070,929 | 42,086,508 | 15,580 |
ENST00000469522.1 | hg19 | chr22 | 42,083,746 | 42,084,851 | 1,106 |
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