SLC22A20P

solute carrier family 22 member 20, pseudogene, the group of Solute carrier family 22

Basic information

Region (hg38): 11:65213873-65242086

Previous symbols: [ "SLC22A20" ]

Links

ENSG00000197847

∙ NCBI:440044 ∙ OMIM:611696 ∙ HGNC:29867 ∙ Uniprot:A6NK97 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SLC22A20P gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC22A20P gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				2 clinvar		2
Total	0	0	0	2	0

Variants in SLC22A20P

This is a list of pathogenic ClinVar variants found in the SLC22A20P region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
11-65217601-G-A			Likely benign (Jan 01, 2023)	2641951
11-65217636-G-A			Likely benign (Oct 01, 2022)	2641952

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Organic anion transporter that mediates the uptake of estrone sulfate. Inhibited by probenecid, propionate, 2- methylbutyrate, 3-methylbutyrate, benzoate, heptanoate and 2- ethylhaxanoate. May act as an odorant transporter (By similarity). {ECO:0000250}.;

Mouse Genome Informatics

Gene name: Slc22a20
Phenotype

Gene ontology

Biological process: ion transport;transmembrane transport
Cellular component: integral component of membrane
Molecular function: transmembrane transporter activity