Product Details

Assay Reference Genome
Location

Chr.11:85958034 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
Within Exon 23
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
PICALM NM_001008660.2 20 3162 NP_001008660.1
NM_001206946.1 20 3267 NP_001193875.1
NM_001206947.1 19 2853 NP_001193876.1
NM_007166.3 20 3288 NP_009097.2
XM_005274322.2 22 3399 XP_005274379.1
XM_005274323.2 22 3384 XP_005274380.1
XM_005274324.2 21 3375 XP_005274381.1
XM_005274325.2 21 3360 XP_005274382.1
XM_005274326.2 21 3296 XP_005274383.1
XM_005274327.2 20 3315 XP_005274384.1
XM_005274328.2 21 3281 XP_005274385.1
XM_005274329.3 20 3257 XP_005274386.1
XM_005274330.2 21 3249 XP_005274387.1
XM_005274331.2 19 3212 XP_005274388.1
XM_005274332.2 21 3234 XP_005274389.1
XM_005274333.2 20 3225 XP_005274390.1
XM_005274334.2 19 3197 XP_005274391.1
XM_005274335.2 20 3210 XP_005274392.1
XM_005274336.2 20 3131 XP_005274393.1
XM_005274337.2 18 3107 XP_005274394.1
XM_005274340.2 17 2957 XP_005274397.1
XM_006718699.2 22 3378 XP_006718762.1
XM_006718700.2 22 3363 XP_006718763.1
XM_006718701.3 21 3354 XP_006718764.1
XM_011545293.1 20 3141 XP_011543595.1
XM_017018381.1 21 3260 XP_016873870.1
XM_017018382.1 19 3165 XP_016873871.1
XM_017018383.1 19 3122 XP_016873872.1
XM_017018384.1 19 3107 XP_016873873.1
XM_017018385.1 18 3092 XP_016873874.1
XM_017018386.1 18 3062 XP_016873875.1
XM_017018387.1 18 3047 XP_016873876.1
XM_017018388.1 19 3038 XP_016873877.1
AB210017.1 20 3267
AK128786.1 1 1016
BC048259.1 20 3049 AAH48259.2
BC064357.1 20 3124 AAH64357.1
BC073961.1 20 2998 AAH73961.1

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 PICALM CCDC83
nsv1035489 Chr11:85791910 - 86067187 on Build GRCh38 Gain SYTL2 PICALM CCDC83
dgv1247n100 Chr11:85930576 - 85973892 on Build GRCh38 Gain PICALM

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