SLC17A2 solute carrier family 17 member 2
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 6 |
| not provided | 5 | 0 |
| Uncertain significance | 0 | 28 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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34 |
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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
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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 | NPT3 |
| MIM | 611049 OMIM |
| HGNC | HGNC:10930 HGNC |
| Ensembl | ENSG00000112337 Ensembl |
| AllianceGenome | HGNC:10930 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000377850.8 | hg38 | chr6 | 25,912,754 | 25,930,691 | 17,938 |
| ENST00000360488.7 | hg38 | chr6 | 25,912,754 | 25,930,611 | 17,858 |
| ENST00000265425.3 | hg38 | chr6 | 25,913,317 | 25,925,817 | 12,501 |
| ENST00000360488.7 | hg19 | chr6 | 25,912,982 | 25,930,839 | 17,858 |
| ENST00000377850.8 | hg19 | chr6 | 25,912,982 | 25,930,919 | 17,938 |
| ENST00000265425.3 | hg19 | chr6 | 25,913,545 | 25,926,045 | 12,501 |
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