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 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PALM | NM_001040134.1 | NP_001035224.1 | ||
NM_002579.2 | NP_002570.2 | |||
XM_005259565.4 | XP_005259622.1 | |||
XM_017026850.1 | XP_016882339.1 | |||
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 | MED16 FSTL3 KISS1R ARID3A RNU6-9 MISP ELANE FGF22 LOC101928450 HCN2 PLPPR3 PTBP1 MIR4745 POLRMT MIR3187 PRTN3 PRSS57 CFD PALM R3HDM4 RNF126 AZU1 |
nsv577978 | Chr.19:294526 - 782854 on Build GRCh38 | Gain | MIER2 FSTL3 CDC34 TPGS1 C2CD4C MISP FGF22 LOC101928450 HCN2 SHC2 POLRMT BSG GZMM MADCAM1 PRSS57 LOC101929060 THEG PALM ODF3L2 RNF126 |
nsv953938 | Chr.19:355801 - 1104501 on Build GRCh38 | Deletion | MED16 ARHGAP45 ARID3A MISP GRIN3B ELANE FGF22 HCN2 SHC2 RNU6-2 MIR4745 POLRMT GZMM MIR3187 THEG CFD PALM R3HDM4 RNF126 TMEM259 FSTL3 POLR2E GPX4 CDC34 TPGS1 KISS1R WDR18 RNU6-9 C2CD4C LOC101928450 PLPPR3 PTBP1 BSG CNN2 LOC105372235 MADCAM1 PRTN3 PRSS57 ABCA7 ODF3L2 AZU1 |
nsv470101 | Chr.19:401714 - 1008505 on Build GRCh38 | Loss | MED16 ARID3A MISP GRIN3B ELANE FGF22 HCN2 SHC2 MIR4745 POLRMT GZMM MIR3187 CFD PALM R3HDM4 RNF126 FSTL3 CDC34 TPGS1 KISS1R WDR18 RNU6-9 C2CD4C LOC101928450 PLPPR3 PTBP1 BSG LOC105372235 MADCAM1 PRTN3 PRSS57 ODF3L2 AZU1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |