STT3A STT3 oligosaccharyltransferase complex catalytic subunit A
Information
- Symbol
- STT3A
- Type
- protein-coding
- Description
- STT3 oligosaccharyltransferase complex catalytic subunit A
- Entrez Gene ID
- 3703
- Genome
- hg19
- Position
- chr11:125,462,747-125,492,986
- Genome
- hg38
- Position
- chr11:125,592,852-125,623,091
- MIM
- 601134 OMIM
- HGNC
- HGNC:6172 HGNC
- Ensembl
- ENSG00000134910 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 2 |
| Likely pathogenic | 0 | 12 |
| Benign | 0 | 118 |
| Likely benign | 0 | 124 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| not provided | 1 | 0 |
| Uncertain significance | 0 | 112 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
46 |
 |
316 |
 |
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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| Category | : |
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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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| Category | : |
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| Search word | : | |
| 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
|
| Category | : |
|
| 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 | CDG1WAD |
| SYNONYM | CDG1WAR |
| SYNONYM | ITM1 |
| SYNONYM | STT3-A |
| SYNONYM | TMC |
| MIM | 601134 OMIM |
| HGNC | HGNC:6172 HGNC |
| Ensembl | ENSG00000134910 Ensembl |
| AllianceGenome | HGNC:6172 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000529196.5 | hg38 | chr11 | 125,592,836 | 125,620,888 | 28,053 |
| ENST00000649491.1 | hg38 | chr11 | 125,592,858 | 125,622,721 | 29,864 |
| ENST00000392708.9 | hg38 | chr11 | 125,592,852 | 125,623,091 | 30,240 |
| ENST00000531491.5 | hg38 | chr11 | 125,592,867 | 125,620,888 | 28,022 |
| ENST00000392708.9 | hg19 | chr11 | 125,462,747 | 125,492,986 | 30,240 |
| ENST00000529196.5 | hg19 | chr11 | 125,462,731 | 125,490,783 | 28,053 |
| ENST00000531491.5 | hg19 | chr11 | 125,462,762 | 125,490,783 | 28,022 |
| ENST00000649491.1 | hg19 | chr11 | 125,462,753 | 125,492,616 | 29,864 |
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