Product Details

Assay Reference Genome
Location

Chr.1:226889051 on build GRCh38
Cytoband
1q42.13
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
5664
Gene Symbol
PSEN2
Gene Name
presenilin 2
Gene Aliases
AD3L, AD4, CMD1V, PS2, STM2
Location
Chr.1:226870572-226903829 on build GRCh38
Assay Gene Location
Overlaps Exon 8 - Intron 8
Gene Symbol Transcript Accession Exon Location Assay 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
AF416718.1 AAL16812.1
AK292299.1
AK301143.1
BC006365.2 AAH06365.1
BT006984.1 AAP35630.1
L43964.1 AAB59557.1
L44577.1 AAC42012.1
U34349.1 AAC50290.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation
Location CNV
Subtype
Genes
nsv952130 Chr1:226884900 - 226895699 on Build GRCh38 Deletion PSEN2

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