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: | Overlaps Intron 3 - Exon 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
VSX1 | NM_001256271.1 | NP_001243200.1 | ||
NM_001256272.1 | NP_001243201.1 | |||
NM_014588.5 | NP_055403.2 | |||
NR_045948.1 | ||||
NR_045951.1 | ||||
XM_017027837.1 | XP_016883326.1 | |||
XM_017027838.1 | XP_016883327.1 | |||
AF176797.2 | AAF37425.2 | |||
AF251033.1 | AAF99656.1 | |||
BC126228.1 | ||||
BC136497.1 | ||||
DQ854807.1 | ||||
DQ854809.1 | ||||
DQ854810.1 | ||||
DQ854811.1 | ||||
DQ854812.1 |
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 LOC101926889 VSX1 ACSS1 APMAP CST7 |
esv3645552 | Chr.20:24494271 - 25093181 on Build GRCh38 | Gain | VSX1 SYNDIG1 ACSS1 APMAP CST7 |
nsv522873 | Chr.20:23923336 - 26134874 on Build GRCh38 | Gain | NINL ABHD12 LOC105372582 LOC101926955 FAM182A FLJ33581 ZNF337 GINS1 LOC101926935 LOC284798 LOC101926889 VSX1 PYGB ENTPD6 LOC105372585 ACSS1 VN1R108P CST7 LOC105372580 NCOR1P1 SYNDIG1 APMAP ZNF337-AS1 LOC100134868 NANP FAM182B GGTLC1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |