SLC4A1 solute carrier family 4 member 1 (Diego blood group)
Information
- Symbol
- SLC4A1
- Type
- protein-coding
- Description
- solute carrier family 4 member 1 (Diego blood group)
- Entrez Gene ID
- 6521
- Genome
- hg19
- Position
- chr17:42,325,758-42,345,503
- Genome
- hg38
- Position
- chr17:44,248,390-44,268,135
- MIM
- 109270 OMIM
- HGNC
- HGNC:11027 HGNC
- Ensembl
- ENSG00000004939 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 156 |
| Likely pathogenic | 2 | 160 |
| Benign | 18 | 140 |
| Likely benign | 2 | 280 |
| Affects | 0 | 4 |
| Conflicting classifications of pathogenicity | 0 | 128 |
| no classification for the single variant | 0 | 4 |
| not provided | 1 | 0 |
| Uncertain significance | 4 | 552 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
262 |
 |
902 |
 |
30 |
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
|
| 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 | AE1 |
| SYNONYM | BND3 |
| SYNONYM | CD233 |
| SYNONYM | CHC |
| SYNONYM | DI |
| SYNONYM | EMPB3 |
| SYNONYM | EPB3 |
| SYNONYM | FR |
| SYNONYM | RTA1A |
| SYNONYM | SAO |
| SYNONYM | SPH4 |
| SYNONYM | SW |
| SYNONYM | WD |
| SYNONYM | WD1 |
| SYNONYM | WR |
| MIM | 109270 OMIM |
| HGNC | HGNC:11027 HGNC |
| Ensembl | ENSG00000004939 Ensembl |
| AllianceGenome | HGNC:11027 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000262418.12 | hg38 | chr17 | 44,248,390 | 44,268,135 | 19,746 |
| ENST00000399246.3 | hg38 | chr17 | 44,248,390 | 44,268,134 | 19,745 |
| ENST00000399246.3 | hg19 | chr17 | 42,325,758 | 42,345,502 | 19,745 |
| ENST00000262418.12 | hg19 | chr17 | 42,325,758 | 42,345,503 | 19,746 |
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