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 5 |
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 | 5 | 1883 | NP_055403.2 | |
NR_045948.1 | ||||
NR_045951.1 | ||||
XM_017027837.1 | XP_016883326.1 | |||
XM_017027838.1 | XP_016883327.1 | |||
AF251033.1 | 5 | 1635 | AAF99656.1 | |
DQ854807.1 | 5 | 1635 | ||
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 CST7 LOC101926889 VSX1 LOC284798 ACSS1 |
esv3645552 | Chr.20:24494271 - 25093181 on Build GRCh38 | Gain | SYNDIG1 APMAP CST7 VSX1 ACSS1 |
nsv522873 | Chr.20:23923336 - 26134874 on Build GRCh38 | Gain | SYNDIG1 VSX1 LOC101926955 NINL ZNF337 CST7 LOC105372582 LOC101926889 LOC100134868 NANP FAM182A LOC284798 ACSS1 FLJ33581 ABHD12 GGTLC1 FAM182B LOC101926935 NCOR1P1 LOC105372585 APMAP VN1R108P PYGB ENTPD6 ZNF337-AS1 LOC105372580 GINS1 |
More Information
Additional Information:
For this assay, SNP(s) [rs76499395] 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 Exonic DGV Variation |