Assay Details
Target Gene Details
Entrez Gene ID: | 5064 |
Gene Name: | paralemmin |
Gene Aliases: |
- |
Location: |
Chr.19:708953-748330 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PALM | NM_001040134.1 | NP_001035224.1 | ||
NM_002579.2 | NP_002570.2 | |||
AK299809.1 | ||||
AK315168.1 | ||||
BC032449.1 | AAH32449.1 | |||
DA521203.1 | ||||
Y14770.1 | CAB37400.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv134n111 | Chr.19:607984 - 967584 on Build GRCh38 | Deletion | MISP PALM MED16 MIR3187 PRTN3 ARID3A CFD KISS1R RNF126 PRSS57 FGF22 PLPPR3 AZU1 R3HDM4 RNU6-9 LOC101928450 MIR4745 HCN2 FSTL3 ELANE PTBP1 POLRMT |
nsv577978 | Chr.19:294526 - 782854 on Build GRCh38 | Gain | MISP PALM THEG C2CD4C SHC2 RNF126 CDC34 ODF3L2 BSG PRSS57 MADCAM1 FGF22 TPGS1 LOC101929060 LOC101928450 GZMM HCN2 MIER2 FSTL3 POLRMT |
nsv953938 | Chr.19:355801 - 1104501 on Build GRCh38 | Deletion | MISP MED16 PRTN3 C2CD4C CFD GRIN3B GPX4 KISS1R RNF126 CDC34 BSG FGF22 PLPPR3 TPGS1 TMEM259 RNU6-9 LOC101928450 MIR4745 PTBP1 ARHGAP45 POLRMT POLR2E PALM LOC105372235 RNU6-2 MIR3187 THEG ARID3A ABCA7 SHC2 WDR18 ODF3L2 PRSS57 MADCAM1 AZU1 R3HDM4 GZMM CNN2 HCN2 FSTL3 ELANE |
nsv470101 | Chr.19:401714 - 1008505 on Build GRCh38 | Loss | MISP MED16 PRTN3 C2CD4C CFD GRIN3B KISS1R RNF126 CDC34 BSG FGF22 PLPPR3 TPGS1 RNU6-9 LOC101928450 MIR4745 PTBP1 POLRMT PALM LOC105372235 MIR3187 ARID3A SHC2 WDR18 ODF3L2 PRSS57 MADCAM1 AZU1 R3HDM4 GZMM HCN2 FSTL3 ELANE |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |