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