Assay Details
Target Gene Details
Entrez Gene ID: | 30813 |
Gene Name: | visual system homeobox 1 |
Gene Aliases: |
CAASDS, KTCN, KTCN1, PPCD, PPCD1, PPD, RINX |
Location: |
Chr.20:25069940-25082379 on Build GRCh38 |
Assay Gene Location: | Within Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
VSX1 | NM_001256271.1 | 4 | 1749 | NP_001243200.1 |
NM_001256272.1 | 5 | 1930 | NP_001243201.1 | |
NR_045948.1 | 6 | 2038 | ||
NR_045951.1 | 5 | 1857 | ||
XM_017027837.1 | 5 | 2272 | XP_016883326.1 | |
XM_017027838.1 | 4 | 2091 | XP_016883327.1 | |
BM680858.1 | 1 | 307 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1056345 | Chr.20:24838934 - 25187523 on Build GRCh38 | Gain | LOC284798 ACSS1 VSX1 LOC101926889 CST7 APMAP |
esv3645552 | Chr.20:24494271 - 25093181 on Build GRCh38 | Gain | ACSS1 VSX1 CST7 APMAP SYNDIG1 |
nsv522873 | Chr.20:23923336 - 26134874 on Build GRCh38 | Gain | FLJ33581 ZNF337 GINS1 NINL CST7 FAM182B APMAP LOC101926955 PYGB ZNF337-AS1 NCOR1P1 LOC105372580 LOC101926935 ENTPD6 LOC105372582 FAM182A LOC284798 ACSS1 VSX1 ABHD12 LOC105372585 LOC101926889 LOC100134868 SYNDIG1 GGTLC1 VN1R108P NANP |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |