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Entrez Gene ID: | 6247 |
Gene Name: | retinoschisin 1 |
Gene Aliases: |
RS, XLRS1 |
Location: |
Chr.X:18639688-18672103 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RS1 | NM_000330.3 | NP_000321.1 | ||
AF014459.1 | AAC17928.1 | |||
BQ636812.1 | ||||
DQ426892.1 |
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv528654 | Chr.X:18627439 - 18660570 on Build GRCh38 | Gain | CDKL5 RS1 |
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |