Product Details

Assay Reference Genome
Location

Chr.11:85958238 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 2958 NP_001008660.1
NM_001206946.1 20 3063 NP_001193875.1
NM_001206947.1 19 2649 NP_001193876.1
NM_007166.3 20 3084 NP_009097.2
XM_005274322.2 22 3195 XP_005274379.1
XM_005274323.2 22 3180 XP_005274380.1
XM_005274324.2 21 3171 XP_005274381.1
XM_005274325.2 21 3156 XP_005274382.1
XM_005274326.2 21 3092 XP_005274383.1
XM_005274327.2 20 3111 XP_005274384.1
XM_005274328.2 21 3077 XP_005274385.1
XM_005274329.3 20 3053 XP_005274386.1
XM_005274330.2 21 3045 XP_005274387.1
XM_005274331.2 19 3008 XP_005274388.1
XM_005274332.2 21 3030 XP_005274389.1
XM_005274333.2 20 3021 XP_005274390.1
XM_005274334.2 19 2993 XP_005274391.1
XM_005274335.2 20 3006 XP_005274392.1
XM_005274336.2 20 2927 XP_005274393.1
XM_005274337.2 18 2903 XP_005274394.1
XM_005274340.2 17 2753 XP_005274397.1
XM_006718699.2 22 3174 XP_006718762.1
XM_006718700.2 22 3159 XP_006718763.1
XM_006718701.3 21 3150 XP_006718764.1
XM_011545293.1 20 2937 XP_011543595.1
XM_017018381.1 21 3056 XP_016873870.1
XM_017018382.1 19 2961 XP_016873871.1
XM_017018383.1 19 2918 XP_016873872.1
XM_017018384.1 19 2903 XP_016873873.1
XM_017018385.1 18 2888 XP_016873874.1
XM_017018386.1 18 2858 XP_016873875.1
XM_017018387.1 18 2843 XP_016873876.1
XM_017018388.1 19 2834 XP_016873877.1
AB210017.1 20 3063
AK128786.1 1 812
BC048259.1 20 2845 AAH48259.2
BC064357.1 20 2920 AAH64357.1
BC073961.1 20 2794 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

View Full Product Details