Overview

Variant ID 20545
Entrez Gene ID 8170
Gene SLC14A2 (GeneCards)
Location hg19 18:43180135-43180135
hg38 18:45600170-45600170
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000018.9:g.43180135 C>T (Genome Assembly: GRCh37)

Other information

Exon or Intron NA
Position in protein NA
Amino acid changes in protein NA > NA
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 78077248

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.1092
CADD Raw score (version 1.3) 0.173339 (Deleterious)
FATHMM raw prediction score 0.11538 (Tolerated)
Deleterious probability by DeFine 0.4425 (Neutral)
Entrez Gene ID 8170 (NCBI Gene)
Official Gene Symbol SLC14A2 (GeneCards)
Number of variants in SLC14A2 in this database 7 (view all the variants)
Full name solute carrier family 14 member 2
Band 18q12.3
Other IDs Vega: OTTHUMG00000132616
OMIM: 601611
HGNC: HGNC:10919
Ensembl: ENSG00000132874
Other names UT2, UTA, UTR, HUT2, UT-A2, hUT-A6
Summary The protein encoded by this gene belongs to the urea transporter family. In mammalian cells, urea is the chief end product of nitrogen catabolism, and plays an important role in the urinary concentration mechanism. This protein is expressed in the inner medulla of the kidney, and mediates rapid transepithelial urea transport across the inner medullary collecting duct. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011]

Individual #1

Individual ID 29217584.13 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 29217584

Pubmed ID 29217584
Title Aging and neurodegeneration are associated with increased mutations in single human neurons.
Journal Science
Publication date 2018.02
Disease Cockayne syndrome Xeroderma Pigmentosum
Number of cases Male cases: 3; Female cases: 6; cases of unknown sex: 15;