SPOCD1 Chromosome 1
SPOC domain containing 1
Upload your DNA to see your personal genotypes for variants in SPOCD1.
What This Gene Does
This gene encodes a protein that belongs to the TFIIS family of transcription factors. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Gene Info
Gene Group
Protein phosphatase 1 regulatory subunits
Locus Type
gene with protein product
Location
1p35.2
Ensembl
ENSG00000134668
Associated Conditions (1)
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Key Variants
RS1557814123
Likely pathogenic
Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
Health Risk
RS2522150245
Likely pathogenic
Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
Health Risk
RS2524654227
Likely pathogenic
Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1557814123 | Health Risk | Likely pathogenic | Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| RS2522150245 | Health Risk | Likely pathogenic | Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| RS2524654227 | Health Risk | Likely pathogenic | Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation |