Assay Details
Target Gene Details
Entrez Gene ID: | 9600 |
Gene Name: | phosphatidylinositol transfer protein membrane associated 1 |
Gene Aliases: |
DRES9, NIR2, PITPNM, RDGB, RDGB1, RDGBA, RDGBA1, Rd9 |
Location: |
Chr.11:67491760-67505391 on Build GRCh38 |
Assay Gene Location: | Within Exon 25 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PITPNM1 | NM_001130848.1 | 24 | 3948 | NP_001124320.1 |
NM_004910.2 | 24 | 3951 | NP_004901.2 | |
XM_011545396.2 | 24 | 3967 | XP_011543698.1 | |
XM_017018586.1 | 24 | 4011 | XP_016874075.1 | |
AF334584.1 | 24 | 3898 | AAK01444.1 | |
AK126944.1 | 13 | 3436 | ||
AK312886.1 | ||||
AY429102.1 | AAR06909.1 | |||
BC022230.1 | 24 | 3941 | AAH22230.1 | |
X98654.1 | 23 | 3914 | CAA67224.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv468604 | Chr.11:67418529 - 67516420 on Build GRCh38 | Loss |
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esv2422195 | Chr.11:67466851 - 67859430 on Build GRCh38 | Duplication |
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dgv1977n54 | Chr.11:67397024 - 67521123 on Build GRCh38 | Loss |
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nsv368 | Chr.11:67479842 - 67509866 on Build GRCh38 | Insertion |
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dgv52n111 | Chr.11:67362651 - 67521123 on Build GRCh38 | Deletion |
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nsv521723 | Chr.11:67408221 - 67543787 on Build GRCh38 | Loss |
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nsv527056 | Chr.11:67439955 - 67526837 on Build GRCh38 | Loss |
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![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
More Information
Set Membership: |
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Panther Classification:
Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)