Assay Details
Target Gene Details
Entrez Gene ID: | 5826 |
Gene Name: | ATP binding cassette subfamily D member 4 |
Gene Aliases: |
ABC41, EST352188, MAHCJ, P70R, P79R, PMP69, PXMP1L |
Location: |
Chr.14:74285277-74303064 on Build GRCh38 |
Assay Gene Location: | Within Exon 18 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ABCD4 | NM_005050.3 | 19 | 2773 | NP_005041.1 |
NR_003256.2 | 18 | 2645 | ||
AF009746.1 | 19 | 2672 | AAB83967.1 | |
BF062605.1 | 1 | 385 | ||
BM667379.1 | 1 | 255 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv565183 | Chr.14:74265506 - 74292774 on Build GRCh38 | Loss | ABCD4 |
nsv565182 | Chr.14:74220714 - 74299190 on Build GRCh38 | Loss | VSX2 ABCD4 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |