Variant: rs754130052

present in Gene: SUN5 present in Chromosome: 20 Position on Chromosome: 32983868 Alleles of this Variant: G/A

rs754130052 in SUN5 gene and SPERMATOGENIC FAILURE 16 PMID 28541472 2017 Homozygous deletion of SUN5 in three men with decapitated spermatozoa.

PMID 28945193 2017 Essential role for SUN5 in anchoring sperm head to the tail.

PMID 27640305 2016 Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome.

PMID 29298896 2018 Mechanistic insights into acephalic spermatozoa syndrome-associated mutations in the human SUN5 gene.