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 | EPN2 EPN2-IT1 SNORD3B-2 B9D1 RNF112 LOC100131943 LOC388436 ALDH3A1 SNORD3A LOC79999 RPS2P46 CCDC144CP AKAP10 SNORD3B-1 EPN2-AS1 SNORD3C SNORA59B ALDH3A2 MAPK7 MIR1180 SLC47A2 GRAP SNORD3D MFAP4 SPECC1 ULK2 LOC102724624 SLC47A1 GRAPL |
nsv833394 | Chr.17:19924401 - 20096264 on Build GRCh38 | Gain | SPECC1 AKAP10 LOC100131943 |
More Information
Additional Information:
For this assay, SNP(s) [rs113189820] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |