RNF212 Chromosome 4
Ring finger protein 212
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What This Gene Does
This gene encodes a RING finger protein that may function as a ubiquitin ligase. The encoded protein may be involved in meiotic recombination. This gene is located within a linkage disequilibrium block and polymorphisms in this gene may influence recombination rates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]
Gene Info
Gene Group
Ring finger proteins
Locus Type
gene with protein product
Location
4p16.3
Ensembl
ENSG00000178222
Associated Conditions (3)
RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1
Spermatogenic failure 62
Down syndrome
Key Variants
RS1670533
association
RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1, RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1
Health Risk
RS3796619
association
RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1, RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1
Health Risk
RS768155534
Conflicting classifications of pathogenicity
Spermatogenic failure 62, Spermatogenic failure 62
Health Risk
RS62296477
risk factor
Down syndrome, Down syndrome
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1670533 | Health Risk | association | RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1, RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1 |
| RS3796619 | Health Risk | association | RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1, RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1 |
| RS768155534 | Health Risk | Conflicting classifications of pathogenicity | Spermatogenic failure 62, Spermatogenic failure 62 |
| RS62296477 | Health Risk | risk factor | Down syndrome, Down syndrome |