Assay Details
Target Gene Details
Entrez Gene ID: | 225 |
Gene Name: | ATP binding cassette subfamily D member 2 |
Gene Aliases: |
ABC39, ALDL1, ALDR, ALDRP, hALDR |
Location: |
Chr.12:39530966-39651333 on Build GRCh38 |
Assay Gene Location: | Within Intron 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ABCD2 | NM_005164.3 | NP_005155.1 | ||
XM_011538027.2 | XP_011536329.1 | |||
XM_017018992.1 | XP_016874481.1 | |||
AJ000327.1 | CAA03994.1 | |||
AK314254.1 | ||||
BC104901.1 | AAI04902.1 | |||
BC104903.1 | AAI04904.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1039645 | Chr.12:39509321 - 39628227 on Build GRCh38 | Loss | ABCD2 C12orf40 |
nsv522940 | Chr.12:39552552 - 39604342 on Build GRCh38 | Loss | ABCD2 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |