• Gene id: 646

Gene Summary

• Gene Symbol: BNC1   Gene   UCSC   Ensembl
• Aliases: BNC, BSN1, HsT19447
• Gene name: basonuclin 1
• Alternate names: zinc finger protein basonuclin-1,
• Gene location: 15q25.2 (83284663: 83255883)     Exons: 7     NC_000015.10
• Gene summary(Entrez): The protein encoded by this gene is a zinc finger protein present in the basal cell layer of the epidermis and in hair follicles. It is also found in abundance in the germ cells of testis and ovary. This protein is thought to play a regulatory role in ker
• OMIM: 601930

SNPs

rs1799941

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.7630105G>A
NC_000017.10   g.7533423G>A
NG_011981.2   g.21042G>A
NM_001146281.2   c.-68G>A
NM_001146279.2   c.-68G>A
NM_001146280.2   c.-68G>A
NM_001289116.1   c.-324G>A|SEQ=[G/A]|GENE=SHBG

rs6259

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.7633209G>A
NC_000017.10   g.7536527G>A
NG_011981.2   g.24146G>A
NM_001040.5   c.1066G>A
NM_001040.4   c.1066G>A
NM_001040.3   c.1066G>A
NM_001146279.3   c.1012G>A
NM_001146279.2   c.1012G>A
NM_001146279.1   c.1012G>A
NM_001146280.3   c.858G>A
NM_0011462  

Protein Summary

Gene ontology

GO accession	Term name	Evidence code	Go category

Diseases

Associated diseases	References
Premature ovarian failure (POF)	INFBASE: 27301361
Spermatogenic defects	MIK: 22266914
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22266914	Maintaining mouse spermatogenesis				Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)