Assay Details
Target Gene Details
Entrez Gene ID: | 92521 |
Gene Name: | sperm antigen with calponin homology and coiled-coil domains 1 |
Gene Aliases: |
CYTSB, HCMOGT-1, HCMOGT1, NSP |
Location: |
Chr.17:20009301-20319026 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SPECC1 | NM_001243439.1 | NP_001230368.1 | ||
XM_017025319.1 | XP_016880808.1 | |||
XM_017025320.1 | XP_016880809.1 | |||
XM_017025325.1 | XP_016880814.1 | |||
AK295093.1 | ||||
DA058164.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1061317 | Chr.17:19047542 - 20322438 on Build GRCh38 | Gain | RPS2P46 ALDH3A1 B9D1 SNORD3A SNORD3C SLC47A1 ULK2 SNORD3D AKAP10 SLC47A2 GRAPL EPN2-IT1 ALDH3A2 MAPK7 SPECC1 LOC388436 SNORD3B-1 MFAP4 LOC102724624 LOC100131943 RNF112 EPN2 CCDC144CP SNORD3B-2 LOC79999 EPN2-AS1 MIR1180 GRAP SNORA59B |
nsv833394 | Chr.17:19924401 - 20096264 on Build GRCh38 | Gain | AKAP10 LOC100131943 SPECC1 |