ENST00000342415.6 SNRNP48
Information
- Transcript ID
- ENST00000342415.6
- Genome
- hg38
- Position
- chr6:7,590,198-7,611,967
- Strand
- +
- CDS length
- 1,020
- Amino acid length
- 340
- Gene symbol
- SNRNP48
- Gene type
- protein-coding
- Gene description
- small nuclear ribonucleoprotein U11/U12 subunit 48
- Gene Entrez Gene ID
- 154007
Variants
Display target variant
Search Word
| Target data | : |
MGeND data only
|
| 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 |
|---|---|---|
| 1 | 7,590,198 | 7,590,413 |
| 2 | 7,593,734 | 7,593,847 |
| 3 | 7,594,099 | 7,594,159 |
| 4 | 7,595,027 | 7,595,101 |
| 5 | 7,601,336 | 7,601,524 |
| 6 | 7,602,623 | 7,602,744 |
| 7 | 7,605,398 | 7,605,486 |
| 8 | 7,606,031 | 7,606,195 |
| 9 | 7,608,825 | 7,611,967 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 1 | CDS | 7,590,258 | 7,590,413 |
| 2 | CDS | 7,593,734 | 7,593,847 |
| 3 | CDS | 7,594,099 | 7,594,159 |
| 4 | CDS | 7,595,027 | 7,595,101 |
| 5 | CDS | 7,601,336 | 7,601,524 |
| 6 | CDS | 7,602,623 | 7,602,744 |
| 7 | CDS | 7,605,398 | 7,605,486 |
| 8 | CDS | 7,606,031 | 7,606,195 |
| 9 | CDS | 7,608,825 | 7,608,873 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg19 | chr6 | 7,590,431 | 7,612,200 | Link |
CDS sequence
ATGGAGGGCGAGCCTCCACCTGTGGAGGAGCGGCGGCGGCTGCAGGAGGAGCTGAACGAGTTCGTGGAGAGCGGCTGCCGGACGTTGGAGGAGGTGACCGCGTCCCTGGGCTGGGACCTAGATAGTCTGGATCCCGGGGAAGAGGAGGCGGCGGAGGATGAAGTTGTGATATGTCCATACGATTCCAATCATCACATGCCTAAATCATCTTTGGCAAAGCACATGGCATCTTGTAGATTGAGGAAAATGGGCTATACCAAAGAAGAAGAGGATGAAATGTATAATCCTGAGTTTTTCTATGAAAATGTGAAGATACCTTCGATTACTTTGAATAAGGACTCACAATTCCAGATAATTAAACAAGCTAGAACTGCAGTTGGGAAAGACAGTGATTGTTATAATCAAAGAATTTATTCTTCATTGCCTGTTGAAGTTCCTTTGAATCACAAACGGTTTGTTTGTGATCTAACTCAAGCTGATCGTCTTGCCCTCTATGATTTCGTAGTTGAGGAGACAAAGAAAAAGCGCTCTGATTCTCAAATTATTGAAAATGACAGCGATCTCTTTGTAGACTTGGCTGCCAAAATCAATCAAGACAATAGTCGAAAAAGTCCAAAATCCTACCTTGAAATCCTGGCAGAAGTACGAGATTATAAAAGAAGACGCCAGTCCTATAGAGCCAAGAATGTTCACATAACCAAGAAATCATATACTGAGGTGATTCGAGATGTGATAAATGTGCACATGGAAGAACTCAGCAATCATTGGCAAGAAGAGCAAGAGAAGGCAGAGGATGATGCCGAAAAGAATGAAGAAAGGCGATCAGCTTCAGTAGATTCACGGCAGTCTGGTGGAAGCTATTTGGATGCTGAGTGTTCACGACATAGAAGGGATAGGAGTAGAAGCCCACATAAAAGAAAAAGAAACAAAGATAAGGATAAAAACTGTGAGTCGAGAAGAAGGAAAGAGAGGGATGGGGAAAGACACCATAGTCATAAAAGAAGAAAGCAAAAAATATAA
Amino sequence
MEGEPPPVEERRRLQEELNEFVESGCRTLEEVTASLGWDLDSLDPGEEEAAEDEVVICPYDSNHHMPKSSLAKHMASCRLRKMGYTKEEEDEMYNPEFFYENVKIPSITLNKDSQFQIIKQARTAVGKDSDCYNQRIYSSLPVEVPLNHKRFVCDLTQADRLALYDFVVEETKKKRSDSQIIENDSDLFVDLAAKINQDNSRKSPKSYLEILAEVRDYKRRRQSYRAKNVHITKKSYTEVIRDVINVHMEELSNHWQEEQEKAEDDAEKNEERRSASVDSRQSGGSYLDAECSRHRRDRSRSPHKRKRNKDKDKNCESRRRKERDGERHHSHKRRKQKI*