Assay Details
Target Gene Details
Entrez Gene ID: | 6610 |
Gene Name: | sphingomyelin phosphodiesterase 2 |
Gene Aliases: |
ISC1, NSMASE, NSMASE1 |
Location: |
Chr.6:109440646-109443922 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 8 - Exon 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SMPD2 | NM_003080.2 | NP_003071.2 | ||
XM_005267109.1 | XP_005267166.1 | |||
XM_011536079.1 | XP_011534381.1 | |||
AJ222801.1 | CAA10995.1 | |||
AK313515.1 | ||||
BC000038.2 | AAH00038.1 | |||
CA314251.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3576210 | Chr.6:109428085 - 109446498 on Build GRCh38 | Gain | MICAL1 PPIL6 SMPD2 |
nsv950493 | Chr.6:109442398 - 109456197 on Build GRCh38 | Deletion | MICAL1 SMPD2 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |