SNAPC5 small nuclear RNA activating complex polypeptide 5
Information
- Symbol
- SNAPC5
- Type
- protein-coding
- Description
- small nuclear RNA activating complex polypeptide 5
- Entrez Gene ID
- 10302
- Genome
- hg19
- Position
- chr15:66,785,806-66,790,100
- Genome
- hg38
- Position
- chr15:66,493,468-66,497,762
- MIM
- 605979 OMIM
- HGNC
- HGNC:15484 HGNC
- Ensembl
- ENSG00000174446 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 2 |
| Benign | 0 | 12 |
| Likely benign | 0 | 48 |
| Conflicting classifications of pathogenicity | 0 | 8 |
| not provided | 6 | 0 |
| Uncertain significance | 0 | 48 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
4 |
 |
16 |
 |
86 |
 |
4 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Search word | : | |
| Filtering | : |
| 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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| Category | : |
|
| Search word | : | |
| 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
|
| Category | : |
|
| 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 | SNAP19 |
| MIM | 605979 OMIM |
| HGNC | HGNC:15484 HGNC |
| Ensembl | ENSG00000174446 Ensembl |
| AllianceGenome | HGNC:15484 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000316634.6 | hg38 | chr15 | 66,493,468 | 66,497,762 | 4,295 |
| ENST00000563480.6 | hg38 | chr15 | 66,490,135 | 66,497,750 | 7,616 |
| ENST00000395589.6 | hg38 | chr15 | 66,490,306 | 66,497,750 | 7,445 |
| ENST00000566658.1 | hg38 | chr15 | 66,494,228 | 66,497,738 | 3,511 |
| ENST00000307979.7 | hg38 | chr15 | 66,493,880 | 66,497,762 | 3,883 |
| ENST00000563480.6 | hg19 | chr15 | 66,782,473 | 66,790,088 | 7,616 |
| ENST00000395589.6 | hg19 | chr15 | 66,782,644 | 66,790,088 | 7,445 |
| ENST00000316634.6 | hg19 | chr15 | 66,785,806 | 66,790,100 | 4,295 |
| ENST00000307979.7 | hg19 | chr15 | 66,786,218 | 66,790,100 | 3,883 |
| ENST00000566658.1 | hg19 | chr15 | 66,786,566 | 66,790,076 | 3,511 |
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