POP5 POP5 homolog, ribonuclease P/MRP subunit
Information
- Symbol
- POP5
- Type
- protein-coding
- Description
- POP5 homolog, ribonuclease P/MRP subunit
- Entrez Gene ID
- 51367
- Genome
- hg19
- Position
- chr12:121,016,567-121,019,205
- Genome
- hg38
- Position
- chr12:120,578,764-120,581,402
- MIM
- 609992 OMIM
- HGNC
- HGNC:17689 HGNC
- Ensembl
- ENSG00000167272 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 14 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
14 |
 |
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 | HSPC004 |
| SYNONYM | RPP2 |
| SYNONYM | RPP20 |
| SYNONYM | hPop5 |
| MIM | 609992 OMIM |
| HGNC | HGNC:17689 HGNC |
| Ensembl | ENSG00000167272 Ensembl |
| AllianceGenome | HGNC:17689 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000357500.5 | hg38 | chr12 | 120,578,764 | 120,581,402 | 2,639 |
| ENST00000341039.6 | hg38 | chr12 | 120,578,764 | 120,581,379 | 2,616 |
| ENST00000341039.6 | hg19 | chr12 | 121,016,567 | 121,019,182 | 2,616 |
| ENST00000357500.5 | hg19 | chr12 | 121,016,567 | 121,019,205 | 2,639 |
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