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 3 |
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_005259566.4 | XP_005259623.1 | |||
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 | ELANE R3HDM4 RNU6-9 POLRMT HCN2 MED16 MIR4745 PALM PRSS57 CFD FGF22 MISP KISS1R RNF126 FSTL3 PTBP1 LOC101928450 ARID3A PLPPR3 PRTN3 MIR3187 AZU1 |
nsv577978 | Chr.19:294526 - 782854 on Build GRCh38 | Gain | THEG POLRMT GZMM HCN2 C2CD4C PALM PRSS57 ODF3L2 FGF22 BSG MISP CDC34 RNF126 MIER2 FSTL3 LOC101928450 TPGS1 SHC2 MADCAM1 LOC101929060 |
nsv953938 | Chr.19:355801 - 1104501 on Build GRCh38 | Deletion | THEG RNU6-9 POLRMT HCN2 MED16 TMEM259 ARHGAP45 MIR4745 PALM CNN2 CDC34 WDR18 RNF126 POLR2E PTBP1 RNU6-2 GPX4 MIR3187 ELANE R3HDM4 GRIN3B GZMM C2CD4C PRSS57 ODF3L2 CFD FGF22 LOC105372235 BSG MISP KISS1R ABCA7 FSTL3 LOC101928450 TPGS1 ARID3A PLPPR3 PRTN3 SHC2 AZU1 MADCAM1 |
nsv470101 | Chr.19:401714 - 1008505 on Build GRCh38 | Loss | RNU6-9 POLRMT HCN2 MED16 MIR4745 PALM CDC34 WDR18 RNF126 PTBP1 MIR3187 ELANE R3HDM4 GRIN3B GZMM C2CD4C PRSS57 ODF3L2 CFD FGF22 LOC105372235 BSG MISP KISS1R FSTL3 LOC101928450 TPGS1 ARID3A PLPPR3 PRTN3 SHC2 AZU1 MADCAM1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |