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 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ABCD2 | XM_011538027.2 | XP_011536329.1 |
Target Gene Details
Entrez Gene ID: | 283461 |
Gene Name: | chromosome 12 open reading frame 40 |
Gene Aliases: |
HEL-206, HEL-S-94 |
Location: |
Chr.12:39626167-39908300 on Build GRCh38 |
Assay Gene Location: | Overlaps Exon 6 - Intron 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
C12orf40 | NM_001031748.3 | NP_001026918.2 | ||
NM_001319247.1 | NP_001306176.1 | |||
NR_135051.1 | ||||
XM_005268806.3 | XP_005268863.1 | |||
XM_011538231.2 | XP_011536533.1 | |||
AK097445.1 | BAC05057.1 | |||
AL705293.1 | ||||
BC038754.1 | AAH38754.2 | |||
BC048120.1 | ||||
BI461967.1 | ||||
EU668334.1 | ||||
GQ472216.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv197n27 | Chr.12:39552552 - 39648418 on Build GRCh38 | Loss | C12orf40 ABCD2 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |