Assay Details
Target Gene Details
Entrez Gene ID: | 6609 |
Gene Name: | sphingomyelin phosphodiesterase 1 |
Gene Aliases: |
ASM, ASMASE, NPD |
Location: |
Chr.11:6390301-6394998 on Build GRCh38 |
Assay Gene Location: | Within Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SMPD1 | NM_000543.4 | 6 | 2071 | NP_000534.3 |
NM_001007593.2 | 6 | 2068 | NP_001007594.2 | |
NM_001318087.1 | 6 | 2091 | NP_001305016.1 | |
NM_001318088.1 | 6 | 2111 | NP_001305017.1 | |
NR_027400.2 | 5 | 1899 | ||
NR_134502.1 | 6 | 1438 | ||
XM_011520303.1 | 5 | 2052 | XP_011518605.1 | |
AB209775.1 | 6 | 2054 | BAD93012.1 | |
AK292388.1 | 6 | 2002 | ||
AY649987.1 | 6 | 1270 | AAV68198.1 | |
BC041164.1 | 5 | 1804 | AAH41164.1 | |
BM977655.1 | 1 | 417 | ||
HQ132745.1 | ||||
HQ132746.1 | ||||
HQ132747.1 | ||||
HQ132748.1 | ||||
M59916.1 | 6 | 1980 | AAA58377.1 | |
X52678.1 | 5 | 1499 | CAA36901.1 | |
X52679.1 | 4 | 943 | CAA36902.1 | |
X59960.1 | 6 | 1996 | CAA42584.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv553371 | Chr.11:6374460 - 6413235 on Build GRCh38 | Loss | APBB1 SMPD1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |