SLC29A1 solute carrier family 29 member 1 (Augustine blood group)
Information
- Symbol
- SLC29A1
- Type
- protein-coding
- Description
- solute carrier family 29 member 1 (Augustine blood group)
- Entrez Gene ID
- 2030
- Genome
- hg19
- Position
- chr6:44,187,290-44,201,861
- Genome
- hg38
- Position
- chr6:44,219,553-44,234,124
- MIM
- 602193 OMIM
- HGNC
- HGNC:11003 HGNC
- Ensembl
- ENSG00000112759 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 2 |
| Benign | 0 | 8 |
| Likely benign | 0 | 10 |
| Uncertain significance | 0 | 26 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
42 |
 |
4 |
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 | : |
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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 | AUG |
| SYNONYM | ENT1 |
| SYNONYM | hENT1 |
| MIM | 602193 OMIM |
| HGNC | HGNC:11003 HGNC |
| Ensembl | ENSG00000112759 Ensembl |
| AllianceGenome | HGNC:11003 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000652680.1 | hg38 | chr6 | 44,219,628 | 44,233,946 | 14,319 |
| ENST00000393844.7 | hg38 | chr6 | 44,219,615 | 44,234,142 | 14,528 |
| ENST00000651428.1 | hg38 | chr6 | 44,219,553 | 44,234,124 | 14,572 |
| ENST00000371755.9 | hg38 | chr6 | 44,223,595 | 44,234,142 | 10,548 |
| ENST00000371708.1 | hg38 | chr6 | 44,227,139 | 44,234,141 | 7,003 |
| ENST00000652453.1 | hg38 | chr6 | 44,223,792 | 44,234,002 | 10,211 |
| ENST00000371724.6 | hg38 | chr6 | 44,223,800 | 44,234,141 | 10,342 |
| ENST00000371713.6 | hg38 | chr6 | 44,219,636 | 44,234,142 | 14,507 |
| ENST00000393844.7 | hg19 | chr6 | 44,187,352 | 44,201,879 | 14,528 |
| ENST00000371708.1 | hg19 | chr6 | 44,194,876 | 44,201,878 | 7,003 |
| ENST00000371713.6 | hg19 | chr6 | 44,187,373 | 44,201,879 | 14,507 |
| ENST00000371724.6 | hg19 | chr6 | 44,191,537 | 44,201,878 | 10,342 |
| ENST00000371755.9 | hg19 | chr6 | 44,191,332 | 44,201,879 | 10,548 |
| ENST00000651428.1 | hg19 | chr6 | 44,187,290 | 44,201,861 | 14,572 |
| ENST00000652680.1 | hg19 | chr6 | 44,187,365 | 44,201,683 | 14,319 |
| ENST00000652453.1 | hg19 | chr6 | 44,191,529 | 44,201,739 | 10,211 |
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