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 Exon 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 | 1 | 162 | 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 | RNF126 MED16 PRTN3 RNU6-9 MIR3187 MIR4745 KISS1R HCN2 PLPPR3 CFD POLRMT LOC101928450 AZU1 PRSS57 MISP FSTL3 PTBP1 PALM ARID3A ELANE FGF22 R3HDM4 |
nsv577978 | Chr.19:294526 - 782854 on Build GRCh38 | Gain | RNF126 C2CD4C GZMM ODF3L2 LOC101929060 SHC2 CDC34 HCN2 TPGS1 MIER2 POLRMT LOC101928450 PRSS57 MISP FSTL3 MADCAM1 PALM FGF22 THEG BSG |
nsv953938 | Chr.19:355801 - 1104501 on Build GRCh38 | Deletion | GZMM PRTN3 ODF3L2 MIR3187 POLR2E GPX4 CDC34 PLPPR3 ARHGAP45 CFD TPGS1 RNU6-2 AZU1 PRSS57 MADCAM1 PTBP1 PALM ELANE WDR18 FGF22 THEG BSG R3HDM4 LOC105372235 RNF126 C2CD4C MED16 TMEM259 RNU6-9 SHC2 GRIN3B MIR4745 KISS1R HCN2 POLRMT LOC101928450 CNN2 MISP FSTL3 ARID3A ABCA7 |
nsv470101 | Chr.19:401714 - 1008505 on Build GRCh38 | Loss | GZMM PRTN3 ODF3L2 MIR3187 CDC34 PLPPR3 CFD TPGS1 AZU1 PRSS57 MADCAM1 PTBP1 PALM ELANE WDR18 FGF22 BSG R3HDM4 LOC105372235 RNF126 C2CD4C MED16 RNU6-9 SHC2 GRIN3B MIR4745 KISS1R HCN2 POLRMT LOC101928450 MISP FSTL3 ARID3A |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |