SNRNP70 small nuclear ribonucleoprotein U1 subunit 70
Information
- Symbol
- SNRNP70
- Type
- protein-coding
- Description
- small nuclear ribonucleoprotein U1 subunit 70
- Entrez Gene ID
- 6625
- Genome
- hg19
- Position
- chr19:49,588,708-49,611,861
- Genome
- hg38
- Position
- chr19:49,085,451-49,108,604
- MIM
- 180740 OMIM
- HGNC
- HGNC:11150 HGNC
- Ensembl
- ENSG00000104852 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 2 |
Uncertain significance | 0 | 40 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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40 |
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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
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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 |
---|---|
SYNONYM | RNPU1Z |
SYNONYM | RPU1 |
SYNONYM | SNRP70 |
SYNONYM | Snp1 |
SYNONYM | U1-70K |
SYNONYM | U170K |
SYNONYM | U1AP |
SYNONYM | U1RNP |
MIM | 180740 OMIM |
HGNC | HGNC:11150 HGNC |
Ensembl | ENSG00000104852 Ensembl |
AllianceGenome | HGNC:11150 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000221448.9 | hg38 | chr19 | 49,085,451 | 49,108,563 | 23,113 |
ENST00000598441.6 | hg38 | chr19 | 49,085,451 | 49,108,604 | 23,154 |
ENST00000221448.9 | hg19 | chr19 | 49,588,708 | 49,611,820 | 23,113 |
ENST00000598441.6 | hg19 | chr19 | 49,588,708 | 49,611,861 | 23,154 |
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