SHOC1 (shortage in chiasmata 1)

2014-11-01  

Identity

HGNC
SHOC1
LOCATION
9q31.3
LOCUSID
158401
ALIAS
C9orf84,MZIP2,ZIP2,ZIP2H

Other Information

Locus ID:

NCBI: 158401
MIM: 618038
HGNC: 26535
Ensembl: ENSG00000165181

Variants:

dbSNP: 158401
ClinVar: 158401
TCGA: ENSG00000165181
COSMIC: SHOC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165181ENST00000318737Q5VXU9
ENSG00000165181ENST00000374283Q5VXU9
ENSG00000165181ENST00000374287Q5VXU9
ENSG00000165181ENST00000394777A6PVK7
ENSG00000165181ENST00000394779Q5VXU9

References

Pubmed IDYearTitleCitations
354859792022Bi-allelic variants in SHOC1 cause non-obstructive azoospermia with meiosis arrest in humans and mice.4
354859792022Bi-allelic variants in SHOC1 cause non-obstructive azoospermia with meiosis arrest in humans and mice.4
329008402021Bi-allelic SHOC1 loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia.10
329008402021Bi-allelic SHOC1 loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia.10

Citation

Dessen P

SHOC1 (shortage in chiasmata 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61331/shoc1-(shortage-in-chiasmata-1)