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 | MISP KISS1R AZU1 POLRMT ELANE PTBP1 RNF126 FGF22 HCN2 CFD LOC101928450 RNU6-9 PRSS57 MED16 MIR4745 PRTN3 MIR3187 PLPPR3 R3HDM4 FSTL3 ARID3A PALM |
nsv577978 | Chr.19:294526 - 782854 on Build GRCh38 | Gain | MISP C2CD4C THEG SHC2 POLRMT TPGS1 LOC101929060 RNF126 MADCAM1 FGF22 HCN2 LOC101928450 ODF3L2 CDC34 GZMM MIER2 PRSS57 FSTL3 BSG PALM |
nsv953938 | Chr.19:355801 - 1104501 on Build GRCh38 | Deletion | MISP C2CD4C KISS1R ABCA7 AZU1 THEG ELANE ARHGAP45 GRIN3B HCN2 GPX4 CFD LOC101928450 ODF3L2 MED16 MIR4745 POLR2E ARID3A RNU6-2 SHC2 POLRMT TPGS1 PTBP1 RNF126 MADCAM1 FGF22 WDR18 CDC34 GZMM RNU6-9 TMEM259 PRSS57 CNN2 PRTN3 MIR3187 PLPPR3 R3HDM4 LOC105372235 FSTL3 BSG PALM |
nsv470101 | Chr.19:401714 - 1008505 on Build GRCh38 | Loss | MISP C2CD4C KISS1R AZU1 ELANE GRIN3B HCN2 CFD LOC101928450 ODF3L2 MED16 MIR4745 ARID3A SHC2 POLRMT TPGS1 PTBP1 RNF126 MADCAM1 FGF22 WDR18 CDC34 GZMM RNU6-9 PRSS57 PRTN3 MIR3187 PLPPR3 R3HDM4 LOC105372235 FSTL3 BSG PALM |
esv3643362 | Chr.19:712133 - 716174 on Build GRCh38 | Loss | PALM |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |