Assay Details
Target Gene Details
Entrez Gene ID: | 24 |
Gene Name: | ATP binding cassette subfamily A member 4 |
Gene Aliases: |
ABC10, ABCR, ARMD2, CORD3, FFM, RMP, RP19, STGD, STGD1 |
Location: |
Chr.1:93992837-94121149 on Build GRCh38 |
Assay Gene Location: | Within Exon 50 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ABCA4 | NM_000350.2 | 50 | 7121 | NP_000341.2 |
AB210040.1 | 50 | 7107 | ||
AF000148.1 | 50 | 7104 | AAC23915.1 | |
AF001945.1 | 50 | 7098 | AAC05632.1 | |
AK296896.1 | 16 | 2344 | ||
CR627391.1 | 28 | 3533 | CAH10486.1 | |
U88667.1 | 50 | 7098 | AAC51144.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv516137 | Chr.1:93938682 - 94038989 on Build GRCh38 | Loss | ABCA4 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |