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Entrez Gene ID: | 5664 |
Gene Name: | presenilin 2 |
Gene Aliases: |
AD3L, AD4, CMD1V, PS2, STM2 |
Location: |
Chr.1:226870572-226903829 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PSEN2 | NM_000447.2 | NP_000438.2 | ||
NM_012486.2 | NP_036618.2 | |||
XM_005273199.3 | XP_005273256.1 | |||
XM_017001835.1 | XP_016857324.1 | |||
XM_017001836.1 | XP_016857325.1 | |||
AK292299.1 | ||||
AK301143.1 | ||||
BC006365.2 | AAH06365.1 | |||
DA198818.1 | ||||
DA915823.1 | ||||
L43964.1 | AAB59557.1 | |||
L44577.1 | AAC42012.1 |
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv4766 | Chr.1:226838253 - 226883260 on Build GRCh38 | Deletion | PSEN2 |
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |