Database of Pathogenic Variants
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Gene Detail
Gene Symbol
SLC22A12
Gene:116085
HGNC:17989
Gene Name
solute carrier family 22 member 12
Chromosome
11
Cytogenetic Band
q13.1
RefSeq Accession
NM_144585
Associated Diseases
Hypouricemia renal 1
Associated Variants
NM_144585.4:c.506+1G>A
NM_144585.3:c.506+1G>A
NM_144585.3:c.774G>A
NM_144585.4:c.774G>A
NM_144585.3:c.269G>A
NM_144585.3:c.889C>A
NM_144585.3:c.935_997delinsTGG
NM_144585.3:c.1145A>T
NM_144585.3:c.1253T>G
NM_144585.3:c.1639_1643delGTCCT