SLC52A1 solute carrier family 52 member 1
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 2 |
| Benign | 0 | 36 |
| Likely benign | 0 | 116 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| Uncertain significance | 0 | 236 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
54 |
 |
334 |
 |
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 | |||||||||||
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| Target data | : |
MGeND data only
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| 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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| 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 | GPCR42 |
| SYNONYM | GPR172B |
| SYNONYM | PAR2 |
| SYNONYM | RBFVD |
| SYNONYM | RFT1 |
| SYNONYM | RFVT1 |
| SYNONYM | hRFT1 |
| SYNONYM | huPAR-2 |
| MIM | 607883 OMIM |
| HGNC | HGNC:30225 HGNC |
| Ensembl | ENSG00000132517 Ensembl |
| AllianceGenome | HGNC:30225 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000254853.10 | hg38 | chr17 | 5,032,602 | 5,035,426 | 2,825 |
| ENST00000424747.1 | hg38 | chr17 | 5,032,605 | 5,035,432 | 2,828 |
| ENST00000512825.7 | hg38 | chr17 | 5,032,600 | 5,052,009 | 19,410 |
| ENST00000512825.7 | hg19 | chr17 | 4,935,895 | 4,955,304 | 19,410 |
| ENST00000254853.10 | hg19 | chr17 | 4,935,897 | 4,938,721 | 2,825 |
| ENST00000424747.1 | hg19 | chr17 | 4,935,900 | 4,938,727 | 2,828 |
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