ENST00000433642.3 BLOC1S3
Information
- Transcript ID
- ENST00000433642.3
- Genome
- hg38
- Position
- chr19:45,178,784-45,181,800
- 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
|
| 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 | 45,178,784 | 45,178,831 |
| 2 | 45,179,288 | 45,181,800 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 2 | CDS | 45,179,297 | 45,179,905 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg19 | chr19 | 45,682,042 | 45,685,058 | Link |
CDS sequence
ATGGCGTCCCAGGGTCGTCGGCGGAGGCCCCTGCGGAGGCCGGAGACGGTGGTGCCGGGGGAGGCGACCGAGACGGATTCCGAGCGCTCTGCGTCCTCGTCGGAGGAGGAGGAGCTGTACCTGGGTCCTTCGGGCCCGACGCGCGGCCGCCCCACGGGGCTGCGGGTGGCTGGGGAAGCCGCGGAGACCGACTCGGAGCCGGAGCCGGAGCCGGAACCGACGGCCGCGCCGAGGGACCTGCCTCCACTCGTGGTGCAGCGGGAATCGGCGGAGGAGGCCTGGGGCACGGAGGAGGCCCCGGCGCCCGCCCCCGCGCGCTCGCTCCTGCAACTTCGGCTGGCGGAGAGCCAGGCGCGGCTGGACCACGACGTGGCGGCCGCCGTGAGCGGTGTCTACCGCCGTGCAGGCCGCGACGTGGCCGCCCTGGCTAGTAGGCTGGCGGCAGCCCAGGCGGCGGGGCTGGCGGCGGCCCACAGCGTGCGCCTGGCGCGCGGGGACCTTTGTGCGCTGGCCGAGCGTCTGGACATCGTGGCTGGCTGCCGCCTGCTGCCGGACATCCGCGGCGTGCCAGGGACCGAGCCTGAGAAAGACCCGGGGCCGCGGGCCTAG
Amino sequence
MASQGRRRRPLRRPETVVPGEATETDSERSASSSEEEELYLGPSGPTRGRPTGLRVAGEAAETDSEPEPEPEPTAAPRDLPPLVVQRESAEEAWGTEEAPAPAPARSLLQLRLAESQARLDHDVAAAVSGVYRRAGRDVAALASRLAAAQAAGLAAAHSVRLARGDLCALAERLDIVAGCRLLPDIRGVPGTEPEKDPGPRA*