ENST00000587722.1 BLOC1S3
Information
- Transcript ID
- ENST00000587722.1
- Genome
- hg19
- Position
- chr19:45,682,481-45,683,212
- Strand
- +
- CDS length
- 609
- Amino acid length
- 203
- Gene symbol
- BLOC1S3
- Gene type
- protein-coding
- Gene description
- biogenesis of lysosomal organelles complex 1 subunit 3
- Gene Entrez Gene ID
- 388552
Variants
Display target variant
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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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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| Category | : |
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| 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 |
|---|---|---|
| 1 | 45,682,481 | 45,683,212 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 1 | CDS | 45,682,555 | 45,683,163 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg38 | chr19 | 45,179,223 | 45,179,954 | Link |
CDS sequence
ATGGCGTCCCAGGGTCGTCGGCGGAGGCCCCTGCGGAGGCCGGAGACGGTGGTGCCGGGGGAGGCGACCGAGACGGATTCCGAGCGCTCTGCGTCCTCGTCGGAGGAGGAGGAGCTGTACCTGGGTCCTTCGGGCCCGACGCGCGGCCGCCCCACGGGGCTGCGGGTGGCTGGGGAAGCCGCGGAGACCGACTCGGAGCCGGAGCCGGAGCCGGAACCGACGGCCGCGCCGAGGGACCTGCCTCCACTCGTGGTGCAGCGGGAATCGGCGGAGGAGGCCTGGGGCACGGAGGAGGCCCCGGCGCCCGCCCCCGCGCGCTCGCTCCTGCAACTTCGGCTGGCGGAGAGCCAGGCGCGGCTGGACCACGACGTGGCGGCCGCCGTGAGCGGTGTCTACCGCCGTGCAGGCCGCGACGTGGCCGCCCTGGCTAGTAGGCTGGCGGCAGCCCAGGCGGCGGGGCTGGCGGCGGCCCACAGCGTGCGCCTGGCGCGCGGGGACCTTTGTGCGCTGGCCGAGCGTCTGGACATCGTGGCTGGCTGCCGCCTGCTGCCGGACATCCGCGGCGTGCCAGGGACCGAGCCTGAGAAAGACCCGGGGCCGCGGGCCTAG
Amino sequence
MASQGRRRRPLRRPETVVPGEATETDSERSASSSEEEELYLGPSGPTRGRPTGLRVAGEAAETDSEPEPEPEPTAAPRDLPPLVVQRESAEEAWGTEEAPAPAPARSLLQLRLAESQARLDHDVAAAVSGVYRRAGRDVAALASRLAAAQAAGLAAAHSVRLARGDLCALAERLDIVAGCRLLPDIRGVPGTEPEKDPGPRA*