ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
Information
- Symbol
- ABO
- Type
- protein-coding
- Description
- ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
- Entrez Gene ID
- 28
- Genome
- hg19
- Position
- chr9:136,130,989-136,150,630
- Genome
- hg38
- Position
- chr9:133,255,602-133,275,214
- MIM
- 110300 OMIM
- HGNC
- HGNC:79 HGNC
- Ensembl
- ENSG00000175164 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 21 |
| Likely benign | 0 | 6 |
| Affects | 0 | 6 |
| association | 0 | 5 |
| Benign; Affects | 0 | 2 |
| no classification for the single variant | 0 | 24 |
| Uncertain significance | 0 | 2 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
9 |
 |
33 |
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
|
| 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 | A3GALNT |
| SYNONYM | A3GALT1 |
| SYNONYM | GTB |
| SYNONYM | NAGAT |
| MIM | 110300 OMIM |
| HGNC | HGNC:79 HGNC |
| Ensembl | ENSG00000175164 Ensembl |
| AllianceGenome | HGNC:79 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000679909.1 | hg38 | chr9 | 133,233,278 | 133,275,219 | 41,942 |
| ENST00000538324.2 | hg38 | chr9 | 133,255,602 | 133,275,214 | 19,613 |
| ENST00000611156.4 | hg38 | chr9 | 133,255,176 | 133,275,214 | 20,039 |
| ENST00000679909.1 | hg19 | chr9 | 136,108,665 | 136,150,635 | 41,971 |
| ENST00000611156.4 | hg19 | chr9 | 136,130,563 | 136,150,630 | 20,068 |
| ENST00000538324.2 | hg19 | chr9 | 136,130,989 | 136,150,630 | 19,642 |
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