ENST00000389995.4 SOD1
Information
- Transcript ID
- ENST00000389995.4
- Genome
- hg38
- Position
- chr21:31,659,666-31,668,931
- Strand
- +
- CDS length
- 408
- Amino acid length
- 136
- Gene symbol
- SOD1
- Gene type
- protein-coding
- Gene description
- superoxide dismutase 1
- Gene Entrez Gene ID
- 6647
Variants
Display target variant
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| 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 | : |
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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 | 31,659,666 | 31,659,784 |
| 2 | 31,663,790 | 31,663,886 |
| 3 | 31,666,449 | 31,666,518 |
| 4 | 31,667,258 | 31,667,375 |
| 5 | 31,668,471 | 31,668,931 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 1 | CDS | 31,659,770 | 31,659,784 |
| 2 | CDS | 31,663,790 | 31,663,886 |
| 3 | CDS | 31,666,449 | 31,666,518 |
| 4 | CDS | 31,667,258 | 31,667,375 |
| 5 | CDS | 31,668,471 | 31,668,578 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg19 | chr21 | 33,031,979 | 33,041,244 | Link |
CDS sequence
ATGGCGACGAAGGCCGAAAGTAATGGACCAGTGAAGGTGTGGGGAAGCATTAAAGGACTGACTGAAGGCCTGCATGGATTCCATGTTCATGAGTTTGGAGATAATACAGCAGGCTGTACCAGTGCAGGTCCTCACTTTAATCCTCTATCCAGAAAACACGGTGGGCCAAAGGATGAAGAGAGGCATGTTGGAGACTTGGGCAATGTGACTGCTGACAAAGATGGTGTGGCCGATGTGTCTATTGAAGATTCTGTGATCTCACTCTCAGGAGACCATTGCATCATTGGCCGCACACTGGTGGTCCATGAAAAAGCAGATGACTTGGGCAAAGGTGGAAATGAAGAAAGTACAAAGACAGGAAACGCTGGAAGTCGTTTGGCTTGTGGTGTAATTGGGATCGCCCAATAA
Amino sequence
MATKAESNGPVKVWGSIKGLTEGLHGFHVHEFGDNTAGCTSAGPHFNPLSRKHGGPKDEERHVGDLGNVTADKDGVADVSIEDSVISLSGDHCIIGRTLVVHEKADDLGKGGNEESTKTGNAGSRLACGVIGIAQ*