Assay Details
Target Gene Details
Entrez Gene ID: | 28962 |
Gene Name: | osteopetrosis associated transmembrane protein 1 |
Gene Aliases: |
GIPN, GL, HSPC019, OPTB5 |
Location: |
Chr.6:108041409-108074737 on Build GRCh38 |
Assay Gene Location: | Within Exon 5 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| OSTM1 | NM_014028.3 | 5 | 954 | NP_054747.2 |
| AF077205.1 | 3 | 307 | AAD27000.1 | |
| AF533891.1 | 5 | 938 | AAO72749.1 | |
| AK075012.1 | 5 | 880 | BAC11351.1 | |
| AK129854.1 | 5 | 948 | ||
| AK314393.1 | 5 | 630 | ||
| AY358795.1 | 5 | 945 | AAQ89155.1 | |
| BC068581.1 | 5 | 936 | AAH68581.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv1031826 | Chr.6:107969391 - 108109876 on Build GRCh38 | Loss |
|
More Information
Set Membership: |
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Genomic Map