GALNT6 polypeptide N-acetylgalactosaminyltransferase 6
Information
- Symbol
- GALNT6
- Type
- protein-coding
- Description
- polypeptide N-acetylgalactosaminyltransferase 6
- Entrez Gene ID
- 11226
- Genome
- hg19
- Position
- chr12:51,745,036-51,785,190
- Genome
- hg38
- Position
- chr12:51,351,252-51,391,406
- MIM
- 605148 OMIM
- HGNC
- HGNC:4128 HGNC
- Ensembl
- ENSG00000139629 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 8 |
| Likely benign | 0 | 4 |
| Uncertain significance | 0 | 84 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
96 |
 |
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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| 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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| 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 | GALNAC-T6 |
| SYNONYM | GalNAcT6 |
| MIM | 605148 OMIM |
| HGNC | HGNC:4128 HGNC |
| Ensembl | ENSG00000139629 Ensembl |
| AllianceGenome | HGNC:4128 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000356317.8 | hg38 | chr12 | 51,351,252 | 51,391,406 | 40,155 |
| ENST00000543196.6 | hg38 | chr12 | 51,351,247 | 51,383,563 | 32,317 |
| ENST00000356317.8 | hg19 | chr12 | 51,745,036 | 51,785,190 | 40,155 |
| ENST00000543196.6 | hg19 | chr12 | 51,745,031 | 51,777,347 | 32,317 |
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