PPP3R1 protein phosphatase 3 regulatory subunit B, alpha
Information
- Symbol
- PPP3R1
- Type
- protein-coding
- Description
- protein phosphatase 3 regulatory subunit B, alpha
- Entrez Gene ID
- 5534
- Genome
- hg19
- Position
- chr2:68,405,989-68,479,664
- Genome
- hg38
- Position
- chr2:68,178,857-68,252,532
- MIM
- 601302 OMIM
- HGNC
- HGNC:9317 HGNC
- Ensembl
- ENSG00000221823 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 4 |
| not provided | 0 | 4 |
| Uncertain significance | 0 | 2 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
6 |
 |
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
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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 |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | CALNB1 |
| SYNONYM | CNB |
| SYNONYM | CNB1 |
| MIM | 601302 OMIM |
| HGNC | HGNC:9317 HGNC |
| Ensembl | ENSG00000221823 Ensembl |
| AllianceGenome | HGNC:9317 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000409752.5 | hg38 | chr2 | 68,180,804 | 68,256,237 | 75,434 |
| ENST00000409377.1 | hg38 | chr2 | 68,180,947 | 68,251,148 | 70,202 |
| ENST00000234310.8 | hg38 | chr2 | 68,178,857 | 68,252,532 | 73,676 |
| ENST00000234310.8 | hg19 | chr2 | 68,405,989 | 68,479,664 | 73,676 |
| ENST00000409752.5 | hg19 | chr2 | 68,407,936 | 68,483,369 | 75,434 |
| ENST00000409377.1 | hg19 | chr2 | 68,408,079 | 68,478,280 | 70,202 |
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