ENST00000539041.5 SMPDL3A
Information
- Transcript ID
- ENST00000539041.5
- Genome
- hg38
- Position
- chr6:122,789,049-122,809,717
- Strand
- +
- CDS length
- 969
- Amino acid length
- 323
- Gene symbol
- SMPDL3A
- Gene type
- protein-coding
- Gene description
- sphingomyelin phosphodiesterase acid like 3A
- Gene Entrez Gene ID
- 10924
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 |
|---|---|---|
| 1 | 122,789,049 | 122,789,458 |
| 2 | 122,796,824 | 122,796,968 |
| 3 | 122,801,310 | 122,801,406 |
| 4 | 122,803,664 | 122,803,833 |
| 5 | 122,804,909 | 122,805,089 |
| 6 | 122,806,233 | 122,806,357 |
| 7 | 122,809,091 | 122,809,717 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 2 | CDS | 122,796,891 | 122,796,968 |
| 3 | CDS | 122,801,310 | 122,801,406 |
| 4 | CDS | 122,803,664 | 122,803,833 |
| 5 | CDS | 122,804,909 | 122,805,089 |
| 6 | CDS | 122,806,233 | 122,806,357 |
| 7 | CDS | 122,809,091 | 122,809,408 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg19 | chr6 | 123,110,194 | 123,130,862 | Link |
CDS sequence
ATGACAACCACCATCCAGAGTCTCTTTCCAAATCTCCAGGTTTTCCCTGCGCTGGGTAATCATGACTATTGGCCACAGGATCAACTGCCTGTAGTCACCAGTAAAGTGTACAATGCAGTAGCAAACCTCTGGAAACCATGGCTAGATGAAGAAGCTATTAGTACTTTAAGGAAAGGTGGTTTTTATTCACAGAAAGTTACAACTAATCCAAACCTTAGGATCATCAGTCTAAACACAAACTTGTACTACGGCCCAAATATAATGACACTGAACAAGACTGACCCAGCCAACCAGTTTGAATGGCTAGAAAGTACATTGAACAACTCTCAGCAGAATAAGGAGAAGGTGTATATCATAGCACATGTTCCAGTGGGGTATCTGCCATCTTCACAGAACATCACAGCAATGAGAGAATACTATAATGAGAAATTGATAGATATTTTTCAAAAATACAGTGATGTCATTGCAGGACAATTTTATGGACACACTCACAGAGACAGCATTATGGTTCTTTCAGATAAAAAAGGAAGTCCAGTAAATTCTTTGTTTGTGGCTCCTGCTGTTACACCAGTGAAGAGTGTTTTAGAAAAACAGACCAACAATCCTGGTATCAGACTGTTTCAGTATGATCCTCGTGATTATAAATTATTGGATATGTTGCAGTATTACTTGAATCTGACAGAGGCGAATCTAAAGGGAGAGTCCATCTGGAAGCTGGAGTATATCCTGACCCAGACCTACGACATTGAAGATTTGCAGCCGGAAAGTTTATATGGATTAGCTAAACAATTTACAATCCTAGACAGTAAGCAGTTTATAAAATACTACAATTACTTCTTTGTGAGTTATGACAGCAGTGTAACATGTGATAAGACATGTAAGGCCTTTCAGATTTGTGCAATTATGAATCTTGATAATATTTCCTATGCAGATTGCCTCAAACAGCTTTATATAAAGCACAATTACTAG
Amino sequence
MTTTIQSLFPNLQVFPALGNHDYWPQDQLPVVTSKVYNAVANLWKPWLDEEAISTLRKGGFYSQKVTTNPNLRIISLNTNLYYGPNIMTLNKTDPANQFEWLESTLNNSQQNKEKVYIIAHVPVGYLPSSQNITAMREYYNEKLIDIFQKYSDVIAGQFYGHTHRDSIMVLSDKKGSPVNSLFVAPAVTPVKSVLEKQTNNPGIRLFQYDPRDYKLLDMLQYYLNLTEANLKGESIWKLEYILTQTYDIEDLQPESLYGLAKQFTILDSKQFIKYYNYFFVSYDSSVTCDKTCKAFQICAIMNLDNISYADCLKQLYIKHNY*