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 Intron 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SMPD3 | NM_018667.3 | NP_061137.1 | ||
XM_005256031.3 | XP_005256088.1 | |||
XM_005256032.3 | XP_005256089.1 | |||
XM_011523207.1 | XP_011521509.1 | |||
XM_011523208.2 | XP_011521510.1 | |||
XM_011523209.2 | XP_011521511.1 | |||
XM_011523210.2 | XP_011521512.1 | |||
XM_017023405.1 | XP_016878894.1 | |||
XM_017023406.1 | XP_016878895.1 | |||
XM_017023407.1 | XP_016878896.1 | |||
XM_017023408.1 | XP_016878897.1 | |||
AJ250460.1 | CAB92964.1 | |||
AK289651.1 | ||||
BC112238.1 | AAI12239.1 | |||
BC143631.1 | ||||
BC143634.1 | ||||
CB268111.1 | ||||
DQ424899.1 | ABD83664.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1847 | Chr.16:68364771 - 68396751 on Build GRCh38 | Insertion | SMPD3 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |