SKA1 spindle and kinetochore associated complex subunit 1
Information
- Symbol
- SKA1
- Type
- protein-coding
- Description
- spindle and kinetochore associated complex subunit 1
- Entrez Gene ID
- 220134
- Genome
- hg19
- Position
- chr18:47,901,416-47,920,538
- Genome
- hg38
- Position
- chr18:50,375,046-50,394,168
- MIM
- 616673 OMIM
- HGNC
- HGNC:28109 HGNC
- Ensembl
- ENSG00000154839 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 6 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
8 |
 |
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 | C18orf24 |
| MIM | 616673 OMIM |
| HGNC | HGNC:28109 HGNC |
| Ensembl | ENSG00000154839 Ensembl |
| AllianceGenome | HGNC:28109 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000488454.5 | hg38 | chr18 | 50,375,046 | 50,392,251 | 17,206 |
| ENST00000417656.6 | hg38 | chr18 | 50,375,043 | 50,392,549 | 17,507 |
| ENST00000398452.6 | hg38 | chr18 | 50,375,040 | 50,392,247 | 17,208 |
| ENST00000285116.8 | hg38 | chr18 | 50,375,046 | 50,394,168 | 19,123 |
| ENST00000398452.6 | hg19 | chr18 | 47,901,410 | 47,918,617 | 17,208 |
| ENST00000417656.6 | hg19 | chr18 | 47,901,413 | 47,918,919 | 17,507 |
| ENST00000488454.5 | hg19 | chr18 | 47,901,416 | 47,918,621 | 17,206 |
| ENST00000285116.8 | hg19 | chr18 | 47,901,416 | 47,920,538 | 19,123 |
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