Assay Details
Target Gene Details
Entrez Gene ID: | 26060 |
Gene Name: | adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 |
Gene Aliases: |
APPL, DIP13alpha, MODY14 |
Location: |
Chr.3:57227737-57273471 on Build GRCh38 |
Assay Gene Location: | Within Exon 23 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
APPL1 | NM_012096.2 | 22 | 2677 | NP_036228.1 |
XM_011533583.2 | 23 | 2730 | XP_011531885.1 | |
AB037849.2 | 22 | 2530 | BAA92666.2 | |
AF169797.1 | 22 | 2588 | AAF04012.1 | |
AF424738.1 | 22 | 2586 | AAL17835.1 |
Target Gene Details
Entrez Gene ID: | 142686 |
Gene Name: | ankyrin repeat and SOCS box containing 14 |
Gene Aliases: |
- |
Location: |
Chr.3:57268351-57293047 on Build GRCh38 |
Assay Gene Location: | Within Intron 10 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ASB14 | NM_001142733.2 | NP_001136205.2 | ||
NM_130387.5 | NP_569058.1 | |||
AL832472.1 |
Target Gene Details
Entrez Gene ID: | 105377102 |
Gene Name: | uncharacterized LOC105377102 |
Gene Aliases: |
- |
Location: |
Chr.3:57269566-57278127 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
LOC105377102 | NR_135535.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3575575 | Chr.3:57253755 - 57419341 on Build GRCh38 | Gain | LOC105377102 ASB14 DNAH12 APPL1 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |