Assay Details
Target Gene Details
Entrez Gene ID: | 55512 |
Gene Name: | sphingomyelin phosphodiesterase 3 |
Gene Aliases: |
NSMASE2 |
Location: |
Chr.16:68358327-68448703 on Build GRCh38 |
Assay Gene Location: | Within Exon 16 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SMPD3 | NM_018667.3 | 9 | 3002 | NP_061137.1 |
XM_005256031.3 | 9 | 3095 | XP_005256088.1 | |
XM_005256032.3 | 9 | 3114 | XP_005256089.1 | |
XM_011523207.1 | 10 | 3095 | XP_011521509.1 | |
XM_011523208.2 | 8 | 3196 | XP_011521510.1 | |
XM_011523209.2 | 8 | 2979 | XP_011521511.1 | |
XM_017023405.1 | 9 | 2921 | XP_016878894.1 | |
XM_017023406.1 | 10 | 3402 | XP_016878895.1 | |
XM_017023407.1 | 10 | 3124 | XP_016878896.1 | |
XM_017023408.1 | 10 | 3078 | XP_016878897.1 | |
AL157660.1 | ||||
BI196095.1 | 1 | 350 | ||
CA424980.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3582280 | Chr.16:68348088 - 68360930 on Build GRCh38 | Loss | SMPD3 PRMT7 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |