SLC26A10P
pseudosolute carrier family 26 member 10, pseudogene, the group of Solute carrier family 26
Gene summary
Predicted to enable transmembrane transporter activity. Predicted to be involved in chloride transmembrane transport and sulfate transmembrane transport. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]
- SLC26A10
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
GenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to SLC26A10P variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript . Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 | 0 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| No transcripts match your selected source or search query. | ||||
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- bicarbonate transport
- oxalate transport
- sulfate transmembrane transport
- chloride transmembrane transport
Molecular Function
- secondary active sulfate transmembrane transporter activity
- bicarbonate transmembrane transporter activity
- chloride transmembrane transporter activity
- sulfate transmembrane transporter activity
- anion:anion antiporter activity
Cellular Component
- integral component of plasma membrane
- basolateral plasma membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000320442
- Coding exons
- 14
- Length
- 6625
- Individuals with no LoFs
- 122400
- Homozygous LoFs
- 38
- Heterozygous LoFs
- 3310
- Defined
- 125748
- p
- 0.0134
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.208 | 291 | 301 | 0.966 | 0.0000154 | 3511 |
| Missense (PolyPhen) | 137 | 144.69 | 0.94688 | 1752 | ||
| Synonymous | 0.454 | 129 | 136 | 0.950 | 0.00000700 | 1249 |
| Loss of Function | 0.138 | 23 | 23.7 | 0.969 | 0.00000115 | 267 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.064 | 0.064 | notable |
| Latino/Admixed American | 0.013 | 0.013 | notable |
| Ashkenazi Jewish | 0.0048 | 0.0047 | notable |
| East Asian | 0.0022 | 0.0022 | notable |
| Finnish | 0.0058 | 0.0055 | notable |
| European (Non-Finnish) | 0.012 | 0.011 | notable |
| South Asian | 0.011 | 0.010 | notable |
| Other | 0.013 | 0.013 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Chloride/bicarbonate exchanger. {ECO:0000250}.;
Recessive Scores
- pRec
- 0.100
Intolerance Scores
- LoFtool
- 0.201
- RVIS EVS
- 2.22
- RVIS percentile EVS
- 98.16
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.351
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | High |
| Cancer | Medium | Medium | Medium |