SHOC1 Chromosome 9
Shortage in chiasmata 1
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What This Gene Does
Enables ATP hydrolysis activity and single-stranded DNA binding activity. Predicted to be involved in resolution of meiotic recombination intermediates and synaptonemal complex assembly. Predicted to be located in chromosome. Predicted to be active in condensed nuclear chromosome. Implicated in spermatogenic failure 75. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (3)
Spermatogenic failure 75
Non-obstructive azoospermia
SHOC1-related condition
Key Variants
RS2131436525
Pathogenic
Spermatogenic failure 75, Spermatogenic failure 75
Health Risk
RS2131485407
Pathogenic
Non-obstructive azoospermia, Non-obstructive azoospermia
Health Risk
RS2131520030
Pathogenic
Spermatogenic failure 75, Spermatogenic failure 75
Health Risk
RS533026166
Pathogenic
Spermatogenic failure 75, Spermatogenic failure 75
Health Risk
RS755742775
Pathogenic
Spermatogenic failure 75, Spermatogenic failure 75
Health Risk
RS777595871
Pathogenic
Spermatogenic failure 75, Spermatogenic failure 75
Health Risk
RS779445148
Pathogenic
Spermatogenic failure 75, Spermatogenic failure 75
Health Risk
RS1004968910
Pathogenic/Likely pathogenic
Spermatogenic failure 75, SHOC1-related condition, Spermatogenic failure 75
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2131436525 | Health Risk | Pathogenic | Spermatogenic failure 75, Spermatogenic failure 75 |
| RS2131485407 | Health Risk | Pathogenic | Non-obstructive azoospermia, Non-obstructive azoospermia |
| RS2131520030 | Health Risk | Pathogenic | Spermatogenic failure 75, Spermatogenic failure 75 |
| RS533026166 | Health Risk | Pathogenic | Spermatogenic failure 75, Spermatogenic failure 75 |
| RS755742775 | Health Risk | Pathogenic | Spermatogenic failure 75, Spermatogenic failure 75 |
| RS777595871 | Health Risk | Pathogenic | Spermatogenic failure 75, Spermatogenic failure 75 |
| RS779445148 | Health Risk | Pathogenic | Spermatogenic failure 75, Spermatogenic failure 75 |
| RS1004968910 | Health Risk | Pathogenic/Likely pathogenic | Spermatogenic failure 75, SHOC1-related condition, Spermatogenic failure 75 |