SPSB2 splA/ryanodine receptor domain and SOCS box containing 2
Information
- Symbol
- SPSB2
- Type
- protein-coding
- Description
- splA/ryanodine receptor domain and SOCS box containing 2
- Entrez Gene ID
- 84727
- Genome
- hg19
- Position
- chr12:6,980,099-6,982,449
- Genome
- hg38
- Position
- chr12:6,870,935-6,873,285
- MIM
- 611658 OMIM
- HGNC
- HGNC:29522 HGNC
- Ensembl
- ENSG00000111671 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Uncertain significance | 0 | 30 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
32 |
 |
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| 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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| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | GRCC9 |
| SYNONYM | SSB2 |
| MIM | 611658 OMIM |
| HGNC | HGNC:29522 HGNC |
| Ensembl | ENSG00000111671 Ensembl |
| AllianceGenome | HGNC:29522 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000519357.1 | hg38 | chr12 | 6,871,593 | 6,873,336 | 1,744 |
| ENST00000524270.6 | hg38 | chr12 | 6,870,935 | 6,873,303 | 2,369 |
| ENST00000523102.5 | hg38 | chr12 | 6,870,935 | 6,873,285 | 2,351 |
| ENST00000523102.5 | hg19 | chr12 | 6,980,099 | 6,982,449 | 2,351 |
| ENST00000524270.6 | hg19 | chr12 | 6,980,099 | 6,982,467 | 2,369 |
| ENST00000519357.1 | hg19 | chr12 | 6,980,757 | 6,982,500 | 1,744 |
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