COLGALT2 collagen beta(1-O)galactosyltransferase 2
Information
- Symbol
- COLGALT2
- Type
- protein-coding
- Description
- collagen beta(1-O)galactosyltransferase 2
- Entrez Gene ID
- 23127
- Genome
- hg19
- Position
- chr1:183,904,968-184,006,862
- Genome
- hg38
- Position
- chr1:183,935,834-184,037,728
- MIM
- 617533 OMIM
- HGNC
- HGNC:16790 HGNC
- Ensembl
- ENSG00000198756 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 102 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
102 |
 |
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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| 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 | C1orf17 |
| SYNONYM | ColGalT 2 |
| SYNONYM | GLT25D2 |
| MIM | 617533 OMIM |
| HGNC | HGNC:16790 HGNC |
| Ensembl | ENSG00000198756 Ensembl |
| AllianceGenome | HGNC:16790 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000361927.9 | hg38 | chr1 | 183,935,834 | 184,037,728 | 101,895 |
| ENST00000649786.1 | hg38 | chr1 | 183,929,854 | 184,037,729 | 107,876 |
| ENST00000367521.5 | hg38 | chr1 | 183,935,837 | 183,946,618 | 10,782 |
| ENST00000367520.3 | hg38 | chr1 | 183,937,965 | 183,964,500 | 26,536 |
| ENST00000649786.1 | hg19 | chr1 | 183,898,988 | 184,006,863 | 107,876 |
| ENST00000361927.9 | hg19 | chr1 | 183,904,968 | 184,006,862 | 101,895 |
| ENST00000367521.5 | hg19 | chr1 | 183,904,971 | 183,915,752 | 10,782 |
| ENST00000367520.3 | hg19 | chr1 | 183,907,099 | 183,933,634 | 26,536 |
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