SMPDL3A sphingomyelin phosphodiesterase acid like 3A
Information
- Symbol
- SMPDL3A
- Type
- protein-coding
- Description
- sphingomyelin phosphodiesterase acid like 3A
- Entrez Gene ID
- 10924
- Genome
- hg19
- Position
- chr6:123,110,403-123,130,865
- Genome
- hg38
- Position
- chr6:122,789,258-122,809,720
- MIM
- 610728 OMIM
- HGNC
- HGNC:17389 HGNC
- Ensembl
- ENSG00000172594 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 36 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
36 |
 |
0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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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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| 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
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| Category | : |
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| 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 | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | ASM3A |
| SYNONYM | ASML3a |
| SYNONYM | yR36GH4.1 |
| MIM | 610728 OMIM |
| HGNC | HGNC:17389 HGNC |
| Ensembl | ENSG00000172594 Ensembl |
| AllianceGenome | HGNC:17389 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000368440.5 | hg38 | chr6 | 122,789,258 | 122,809,720 | 20,463 |
| ENST00000539041.5 | hg38 | chr6 | 122,789,049 | 122,809,717 | 20,669 |
| ENST00000539041.5 | hg19 | chr6 | 123,110,194 | 123,130,862 | 20,669 |
| ENST00000368440.5 | hg19 | chr6 | 123,110,403 | 123,130,865 | 20,463 |
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