ITPRID2 ITPR interacting domain containing 2
Information
- Symbol
- ITPRID2
- Type
- protein-coding
- Description
- ITPR interacting domain containing 2
- Entrez Gene ID
- 6744
- Genome
- hg19
- Position
- chr2:182,756,457-182,795,465
- Genome
- hg38
- Position
- chr2:181,891,730-181,930,738
- MIM
- 118990 OMIM
- HGNC
- HGNC:11319 HGNC
- Ensembl
- ENSG00000138434 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 8 |
| Uncertain significance | 0 | 160 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
168 |
 |
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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| 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 | CS-1 |
| SYNONYM | CS1 |
| SYNONYM | KRAP |
| SYNONYM | SPAG13 |
| SYNONYM | SSFA2 |
| MIM | 118990 OMIM |
| HGNC | HGNC:11319 HGNC |
| Ensembl | ENSG00000138434 Ensembl |
| AllianceGenome | HGNC:11319 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000409001.5 | hg38 | chr2 | 181,891,985 | 181,930,738 | 38,754 |
| ENST00000431877.7 | hg38 | chr2 | 181,891,730 | 181,930,738 | 39,009 |
| ENST00000409136.5 | hg38 | chr2 | 181,910,505 | 181,930,738 | 20,234 |
| ENST00000320370.11 | hg38 | chr2 | 181,891,955 | 181,930,738 | 38,784 |
| ENST00000431877.7 | hg19 | chr2 | 182,756,457 | 182,795,465 | 39,009 |
| ENST00000320370.11 | hg19 | chr2 | 182,756,682 | 182,795,465 | 38,784 |
| ENST00000409001.5 | hg19 | chr2 | 182,756,712 | 182,795,465 | 38,754 |
| ENST00000409136.5 | hg19 | chr2 | 182,775,232 | 182,795,465 | 20,234 |
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