SLC22A18 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- SLC22A18 (HGNC:10964) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- solute carrier family 22 member 18
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- ORCTL2, BWSCR1A, IMPT1, SLC22A1L
- Alias symbols
- BWR1A, TSSC5, ITM
- %HI
- 68.74(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.16(Read more about gnomAD LOEUF score)
- Cytoband
- 11p15.4
- Genomic Coordinates
-
GRCh37/hg19: chr11:2920921-2946476 NCBI Ensembl UCSC GRCh38/hg38: chr11:2899691-2925246 NCBI Ensembl UCSC - MANE Select Transcript
- NM_002555.6 ENST00000649076.2 (Read more about MANE Select)
- Function
- May act as a transporter of organic cations based on a proton efflux antiport mechanism. May play a role in the transport of chloroquine and quinidine-related compounds in kidney. {ECO:0000269|PubMed:9744804}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-7112
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
03/22/2012
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000011.9)
(NC_000011.10)