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 6 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| OSTM1 | NM_014028.3 | 6 | 2548 | NP_054747.2 |
| AF077205.1 | 4 | 1901 | AAD27000.1 | |
| AF533891.1 | 6 | 2532 | AAO72749.1 | |
| AJ420489.1 | 1 | 919 | ||
| AJ420572.1 | 1 | 1212 | ||
| AK075012.1 | 6 | 2474 | BAC11351.1 | |
| AK129854.1 | 6 | 2542 | ||
| BC068581.1 | 6 | 2530 | 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 |
|
| nsv604456 | Chr.6:107999992 - 108043747 on Build GRCh38 | Loss |
|
More Information
Additional Information:
For this assay, SNP(s) [rs140320992] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
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Genomic Map