ST8SIA1 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1
Information
- Symbol
- ST8SIA1
- Type
- protein-coding
- Description
- ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1
- Entrez Gene ID
- 6489
- Genome
- hg19
- Position
- chr12:22,346,325-22,487,641
- Genome
- hg38
- Position
- chr12:22,193,391-22,334,707
- MIM
- 601123 OMIM
- HGNC
- HGNC:10869 HGNC
- Ensembl
- ENSG00000111728 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 20 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
22 |
 |
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 | GD3S |
| SYNONYM | SIAT8 |
| SYNONYM | SIAT8-A |
| SYNONYM | SIAT8A |
| SYNONYM | ST8SiaI |
| MIM | 601123 OMIM |
| HGNC | HGNC:10869 HGNC |
| Ensembl | ENSG00000111728 Ensembl |
| AllianceGenome | HGNC:10869 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000404299.3 | hg38 | chr12 | 22,324,379 | 22,334,700 | 10,322 |
| ENST00000396037.9 | hg38 | chr12 | 22,193,391 | 22,334,707 | 141,317 |
| ENST00000381424.3 | hg38 | chr12 | 22,325,099 | 22,334,671 | 9,573 |
| ENST00000396037.9 | hg19 | chr12 | 22,346,325 | 22,487,641 | 141,317 |
| ENST00000404299.3 | hg19 | chr12 | 22,477,313 | 22,487,634 | 10,322 |
| ENST00000381424.3 | hg19 | chr12 | 22,478,033 | 22,487,605 | 9,573 |
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