SDR39U1 short chain dehydrogenase/reductase family 39U member 1
Information
- Symbol
- SDR39U1
- Type
- protein-coding
- Description
- short chain dehydrogenase/reductase family 39U member 1
- Entrez Gene ID
- 56948
- Genome
- hg19
- Position
- chr14:24,908,972-24,911,982
- Genome
- hg38
- Position
- chr14:24,439,766-24,442,776
- MIM
- 616162 OMIM
- HGNC
- HGNC:20275 HGNC
- Ensembl
- ENSG00000100445 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
| 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 | C14orf124 |
| SYNONYM | HCDI |
| MIM | 616162 OMIM |
| HGNC | HGNC:20275 HGNC |
| Ensembl | ENSG00000100445 Ensembl |
| AllianceGenome | HGNC:20275 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000553930.5 | hg38 | chr14 | 24,439,779 | 24,442,858 | 3,080 |
| ENST00000399395.8 | hg38 | chr14 | 24,439,766 | 24,442,776 | 3,011 |
| ENST00000538105.6 | hg38 | chr14 | 24,439,782 | 24,442,448 | 2,667 |
| ENST00000554698.5 | hg38 | chr14 | 24,439,785 | 24,442,694 | 2,910 |
| ENST00000555365.5 | hg38 | chr14 | 24,439,902 | 24,442,765 | 2,864 |
| ENST00000399395.8 | hg19 | chr14 | 24,908,972 | 24,911,982 | 3,011 |
| ENST00000553930.5 | hg19 | chr14 | 24,908,985 | 24,912,064 | 3,080 |
| ENST00000538105.6 | hg19 | chr14 | 24,908,988 | 24,911,654 | 2,667 |
| ENST00000554698.5 | hg19 | chr14 | 24,908,991 | 24,911,900 | 2,910 |
| ENST00000555365.5 | hg19 | chr14 | 24,909,108 | 24,911,971 | 2,864 |
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