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 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
VSX1 | NM_001256271.1 | 1 | 270 | NP_001243200.1 |
NM_001256272.1 | 1 | 270 | NP_001243201.1 | |
NM_014588.5 | 1 | 270 | NP_055403.2 | |
NM_199425.2 | 1 | 270 | NP_955457.1 | |
NR_045948.1 | 1 | 270 | ||
NR_045951.1 | 1 | 270 | ||
XM_017027837.1 | XP_016883326.1 | |||
XM_017027838.1 | XP_016883327.1 | |||
AF176797.2 | 1 | 260 | AAF37425.2 | |
AF251033.1 | AAF99656.1 | |||
AF251034.1 | AAF99657.1 | |||
BC126228.1 | ||||
BC136497.1 | ||||
DQ854807.1 | ||||
DQ854808.1 | ||||
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 | APMAP ACSS1 CST7 LOC284798 LOC101926889 VSX1 |
esv3645552 | Chr.20:24494271 - 25093181 on Build GRCh38 | Gain | APMAP ACSS1 CST7 SYNDIG1 VSX1 |
nsv522873 | Chr.20:23923336 - 26134874 on Build GRCh38 | Gain | ZNF337-AS1 FAM182B LOC101926935 NINL ZNF337 VSX1 GINS1 APMAP FAM182A ABHD12 LOC100134868 NANP CST7 FLJ33581 ACSS1 ENTPD6 LOC105372585 PYGB LOC101926955 LOC101926889 GGTLC1 SYNDIG1 NCOR1P1 LOC105372582 VN1R108P LOC105372580 LOC284798 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |