JSRP1 junctional sarcoplasmic reticulum protein 1
Information
- Symbol
- JSRP1
- Type
- protein-coding
- Description
- junctional sarcoplasmic reticulum protein 1
- Entrez Gene ID
- 126306
- Genome
- hg19
- Position
- chr19:2,252,251-2,256,416
- Genome
- hg38
- Position
- chr19:2,252,252-2,256,417
- MIM
- 608743 OMIM
- HGNC
- HGNC:24963 HGNC
- Ensembl
- ENSG00000167476 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 44 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
44 |
 |
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
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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
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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 | JP-45 |
| SYNONYM | JP45 |
| MIM | 608743 OMIM |
| HGNC | HGNC:24963 HGNC |
| Ensembl | ENSG00000167476 Ensembl |
| AllianceGenome | HGNC:24963 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000300961.10 | hg38 | chr19 | 2,252,252 | 2,256,417 | 4,166 |
| ENST00000300961.10 | hg19 | chr19 | 2,252,251 | 2,256,416 | 4,166 |
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