ENST00000246868.7 SBDS
Information
- Transcript ID
- ENST00000246868.7
- Genome
- hg19
- Position
- chr7:66,452,667-66,460,573
- Strand
- -
- CDS length
- 753
- Amino acid length
- 251
- Gene symbol
- SBDS
- Gene type
- protein-coding
- Gene description
- SBDS ribosome maturation factor
- Gene Entrez Gene ID
- 51119
Variants
Display target variant
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
|
| 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 | |||||||||||||||
Exon
| Exon number | Start | Stop |
|---|---|---|
| 5 | 66,452,667 | 66,453,486 |
| 4 | 66,456,124 | 66,456,288 |
| 3 | 66,458,204 | 66,458,404 |
| 2 | 66,459,199 | 66,459,328 |
| 1 | 66,460,277 | 66,460,573 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 5 | CDS | 66,453,358 | 66,453,486 |
| 4 | CDS | 66,456,124 | 66,456,288 |
| 3 | CDS | 66,458,204 | 66,458,404 |
| 2 | CDS | 66,459,199 | 66,459,328 |
| 1 | CDS | 66,460,277 | 66,460,404 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg38 | chr7 | 66,987,680 | 66,995,586 | Link |
CDS sequence
ATGTCGATCTTCACCCCCACCAACCAGATCCGCCTAACCAATGTGGCCGTGGTACGGATGAAGCGTGCCGGGAAGCGCTTCGAAATCGCCTGCTACAAAAACAAGGTCGTCGGCTGGCGGAGCGGCGTGGAAAAAGACCTCGATGAAGTTCTGCAGACCCACTCAGTGTTTGTAAATGTTTCTAAAGGTCAGGTTGCCAAAAAGGAAGATCTCATCAGTGCGTTTGGAACAGATGACCAAACTGAAATCTGTAAGCAGATTTTGACTAAAGGAGAAGTTCAAGTATCAGATAAAGAAAGACACACACAACTGGAGCAGATGTTTAGGGACATTGCAACTATTGTGGCAGACAAATGTGTGAATCCTGAAACAAAGAGACCATACACCGTGATCCTTATTGAGAGAGCCATGAAGGACATCCACTATTCGGTGAAAACCAACAAGAGTACAAAACAGCAGGCTTTGGAAGTGATAAAGCAGTTAAAAGAGAAAATGAAGATAGAACGTGCTCACATGAGGCTTCGGTTCATCCTTCCAGTCAATGAAGGCAAGAAGCTGAAAGAAAAGCTCAAGCCACTGATCAAGGTCATAGAAAGTGAAGATTATGGCCAACAGTTAGAAATCGTATGTCTGATTGACCCGGGCTGCTTCCGAGAAATTGATGAGCTAATAAAAAAGGAAACTAAAGGCAAAGGTTCTTTGGAAGTACTCAATCTGAAAGATGTAGAAGAAGGAGATGAGAAATTTGAATGA
Amino sequence
MSIFTPTNQIRLTNVAVVRMKRAGKRFEIACYKNKVVGWRSGVEKDLDEVLQTHSVFVNVSKGQVAKKEDLISAFGTDDQTEICKQILTKGEVQVSDKERHTQLEQMFRDIATIVADKCVNPETKRPYTVILIERAMKDIHYSVKTNKSTKQQALEVIKQLKEKMKIERAHMRLRFILPVNEGKKLKEKLKPLIKVIESEDYGQQLEIVCLIDPGCFREIDELIKKETKGKGSLEVLNLKDVEEGDEKFE*