Product Details

Assay Reference Genome
Location

Chr.11:85978112 on build GRCh38
Cytoband
11q14.2
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
8301
Gene Symbol
PICALM
Gene Name
phosphatidylinositol binding clathrin assembly protein
Gene Aliases
CALM, CLTH, LAP
Location
Chr.11:85957171-86069881 on build GRCh38
Assay Gene Location
Overlaps Intron 18 - Exon 19
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
PICALM NM_001008660.2 NP_001008660.1
NM_001206946.1 NP_001193875.1
NM_001206947.1 NP_001193876.1
NM_007166.3 NP_009097.2
XM_005274322.2 XP_005274379.1
XM_005274323.2 XP_005274380.1
XM_005274324.2 XP_005274381.1
XM_005274325.2 XP_005274382.1
XM_005274326.2 XP_005274383.1
XM_005274327.2 XP_005274384.1
XM_005274328.2 XP_005274385.1
XM_005274329.3 XP_005274386.1
XM_005274330.2 XP_005274387.1
XM_005274331.2 XP_005274388.1
XM_005274332.2 XP_005274389.1
XM_005274333.2 XP_005274390.1
XM_005274334.2 XP_005274391.1
XM_005274335.2 XP_005274392.1
XM_005274336.2 XP_005274393.1
XM_005274337.2 XP_005274394.1
XM_005274340.2 XP_005274397.1
XM_006718699.2 XP_006718762.1
XM_006718700.2 XP_006718763.1
XM_006718701.3 XP_006718764.1
XM_011545293.1 XP_011543595.1
XM_017018381.1 XP_016873870.1
XM_017018382.1 XP_016873871.1
XM_017018383.1 XP_016873872.1
XM_017018384.1 XP_016873873.1
XM_017018385.1 XP_016873874.1
XM_017018386.1 XP_016873875.1
XM_017018387.1 XP_016873876.1
XM_017018388.1 XP_016873877.1
AB210017.1
AB451308.1
AF060939.1 AAC16711.1
AF060940.1 AAC16712.1
AK291414.1
AK297062.1
AK300275.1
BC048259.1 AAH48259.2
BC064357.1 AAH64357.1
BC073961.1 AAH73961.1
EF051633.1
U45976.1 AAB07762.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation
Location CNV
Subtype
Genes
nsv1053808 Chr11:85877876 - 86046651 on Build GRCh38 Gain CCDC83 PICALM
nsv1035489 Chr11:85791910 - 86067187 on Build GRCh38 Gain CCDC83 PICALM SYTL2
dgv2041n54 Chr11:85972511 - 86064017 on Build GRCh38 Loss PICALM
nsv469975 Chr11:85977166 - 86018329 on Build GRCh38 Gain PICALM

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