SLC35A2 solute carrier family 35 member A2
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 10 | 60 |
| Likely pathogenic | 0 | 40 |
| Benign | 0 | 81 |
| Likely benign | 0 | 232 |
| Conflicting classifications of pathogenicity | 0 | 34 |
| not provided | 6 | 2 |
| Uncertain significance | 0 | 176 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
88 |
 |
439 |
 |
26 |
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
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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 | CDG2M |
| SYNONYM | CDGX |
| SYNONYM | UDP-Gal-Tr |
| SYNONYM | UGALT |
| SYNONYM | UGAT |
| SYNONYM | UGT |
| SYNONYM | UGT1 |
| SYNONYM | UGT2 |
| SYNONYM | UGTL |
| MIM | 314375 OMIM |
| HGNC | HGNC:11022 HGNC |
| Ensembl | ENSG00000102100 Ensembl |
| AllianceGenome | HGNC:11022 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000634665.1 | hg38 | chrX | 48,905,398 | 48,911,646 | 6,249 |
| ENST00000634461.1 | hg38 | chrX | 48,906,135 | 48,911,669 | 5,535 |
| ENST00000635589.1 | hg38 | chrX | 48,904,312 | 48,911,646 | 7,335 |
| ENST00000616181.5 | hg38 | chrX | 48,904,344 | 48,911,646 | 7,303 |
| ENST00000452555.7 | hg38 | chrX | 48,904,440 | 48,911,646 | 7,207 |
| ENST00000635015.1 | hg38 | chrX | 48,905,859 | 48,911,646 | 5,788 |
| ENST00000376521.6 | hg38 | chrX | 48,903,184 | 48,911,958 | 8,775 |
| ENST00000445167.7 | hg38 | chrX | 48,903,613 | 48,911,669 | 8,057 |
| ENST00000247138.11 | hg38 | chrX | 48,903,183 | 48,911,646 | 8,464 |
| ENST00000376529.8 | hg38 | chrX | 48,903,184 | 48,911,646 | 8,463 |
| ENST00000376512.2 | hg38 | chrX | 48,905,956 | 48,911,677 | 5,722 |
| ENST00000376515.8 | hg38 | chrX | 48,904,284 | 48,911,958 | 7,675 |
| ENST00000247138.11 | hg19 | chrX | 48,760,460 | 48,768,923 | 8,464 |
| ENST00000634461.1 | hg19 | chrX | 48,763,412 | 48,768,946 | 5,535 |
| ENST00000376529.8 | hg19 | chrX | 48,760,461 | 48,768,923 | 8,463 |
| ENST00000376512.2 | hg19 | chrX | 48,763,233 | 48,768,954 | 5,722 |
| ENST00000376521.6 | hg19 | chrX | 48,760,461 | 48,769,235 | 8,775 |
| ENST00000445167.7 | hg19 | chrX | 48,760,890 | 48,768,946 | 8,057 |
| ENST00000376515.8 | hg19 | chrX | 48,761,561 | 48,769,235 | 7,675 |
| ENST00000616181.5 | hg19 | chrX | 48,761,621 | 48,768,923 | 7,303 |
| ENST00000452555.7 | hg19 | chrX | 48,761,717 | 48,768,923 | 7,207 |
| ENST00000634665.1 | hg19 | chrX | 48,762,675 | 48,768,923 | 6,249 |
| ENST00000635015.1 | hg19 | chrX | 48,763,136 | 48,768,923 | 5,788 |
| ENST00000635589.1 | hg19 | chrX | 48,761,589 | 48,768,923 | 7,335 |
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