SAMM50 SAMM50 sorting and assembly machinery component
Information
- Symbol
- SAMM50
- Type
- protein-coding
- Description
- SAMM50 sorting and assembly machinery component
- Entrez Gene ID
- 25813
- Genome
- hg19
- Position
- chr22:44,351,322-44,392,409
- Genome
- hg38
- Position
- chr22:43,955,442-43,996,529
- MIM
- 612058 OMIM
- HGNC
- HGNC:24276 HGNC
- Ensembl
- ENSG00000100347 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 14 |
| Likely benign | 0 | 2 |
| not provided | 1 | 0 |
| Uncertain significance | 0 | 60 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
76 |
 |
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
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 | CGI-51 |
| SYNONYM | OMP85 |
| SYNONYM | SAM50 |
| SYNONYM | TOB55 |
| SYNONYM | TRG-3 |
| SYNONYM | YNL026W |
| MIM | 612058 OMIM |
| HGNC | HGNC:24276 HGNC |
| Ensembl | ENSG00000100347 Ensembl |
| AllianceGenome | HGNC:24276 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000350028.5 | hg38 | chr22 | 43,955,442 | 43,996,529 | 41,088 |
| ENST00000350028.5 | hg19 | chr22 | 44,351,322 | 44,392,409 | 41,088 |
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