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: | Overlaps Exon 3 - Intron 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 | 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 | HCN2 FSTL3 PRSS57 PALM ARID3A FGF22 POLRMT MIR3187 PLPPR3 PRTN3 RNU6-9 KISS1R MED16 RNF126 AZU1 MISP PTBP1 CFD MIR4745 LOC101928450 ELANE R3HDM4 |
nsv577978 | Chr.19:294526 - 782854 on Build GRCh38 | Gain | BSG HCN2 C2CD4C MIER2 CDC34 FSTL3 PRSS57 PALM GZMM MADCAM1 FGF22 SHC2 POLRMT ODF3L2 RNF126 MISP TPGS1 LOC101928450 THEG LOC101929060 |
nsv953938 | Chr.19:355801 - 1104501 on Build GRCh38 | Deletion | LOC105372235 C2CD4C CDC34 FSTL3 PALM MADCAM1 FGF22 POLRMT MIR3187 TMEM259 PRTN3 RNU6-9 KISS1R MED16 AZU1 MISP TPGS1 MIR4745 THEG CNN2 BSG HCN2 ABCA7 PRSS57 GZMM WDR18 ARID3A SHC2 ODF3L2 PLPPR3 RNF126 ARHGAP45 GPX4 PTBP1 CFD LOC101928450 ELANE RNU6-2 R3HDM4 POLR2E GRIN3B |
nsv470101 | Chr.19:401714 - 1008505 on Build GRCh38 | Loss | LOC105372235 C2CD4C CDC34 FSTL3 PALM MADCAM1 FGF22 POLRMT MIR3187 PRTN3 RNU6-9 KISS1R MED16 AZU1 MISP TPGS1 MIR4745 BSG HCN2 PRSS57 GZMM WDR18 ARID3A SHC2 ODF3L2 PLPPR3 RNF126 PTBP1 CFD LOC101928450 ELANE R3HDM4 GRIN3B |
More Information
Additional Information:
For this assay, SNP(s) [rs117757692] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Non-exonic DGV Variation |