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