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