SMIM5 small integral membrane protein 5
Information
- Symbol
- SMIM5
- Type
- protein-coding
- Description
- small integral membrane protein 5
- Entrez Gene ID
- 643008
- Genome
- hg19
- Position
- chr17:73,632,675-73,637,480
- Genome
- hg38
- Position
- chr17:75,636,595-75,641,400
- HGNC
- HGNC:40030 HGNC
- Ensembl
- ENSG00000204323 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 10 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
12 |
 |
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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| 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 | C17orf109 |
| SYNONYM | PP12104 |
| HGNC | HGNC:40030 HGNC |
| Ensembl | ENSG00000204323 Ensembl |
| AllianceGenome | HGNC:40030 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000375215.3 | hg38 | chr17 | 75,633,434 | 75,641,404 | 7,971 |
| ENST00000537494.1 | hg38 | chr17 | 75,636,595 | 75,641,400 | 4,806 |
| ENST00000375215.3 | hg19 | chr17 | 73,629,514 | 73,637,484 | 7,971 |
| ENST00000537494.1 | hg19 | chr17 | 73,632,675 | 73,637,480 | 4,806 |
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