Assay Details
Target Gene Details
Entrez Gene ID: | 10924 |
Gene Name: | sphingomyelin phosphodiesterase acid like 3A |
Gene Aliases: |
ASM3A, ASML3a, yR36GH4.1 |
Location: |
Chr.6:122787180-122809720 on Build GRCh38 |
Assay Gene Location: | Overlaps Exon 1 - Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SMPDL3A | NM_001286138.1 | NP_001273067.1 | ||
NM_006714.4 | NP_006705.1 | |||
XM_005266798.2 | XP_005266855.1 | |||
XM_005266799.2 | XP_005266856.1 | |||
XM_005266801.2 | XP_005266858.1 | |||
XM_005266802.2 | XP_005266859.1 | |||
XM_017010203.1 | XP_016865692.1 | |||
XM_017010204.1 | XP_016865693.1 | |||
AK000184.1 | ||||
AK301365.1 | ||||
BC018999.2 | AAH18999.1 | |||
DA510600.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv823834 | Chr.6:122788866 - 122789644 on Build GRCh38 | Gain | SMPDL3A |
nsv830791 | Chr.6:122603817 - 122835010 on Build GRCh38 | Gain | PKIB SMPDL3A FABP7 |
nsv1035007 | Chr.6:122772847 - 122864699 on Build GRCh38 | Gain | SMPDL3A FABP7 |
More Information
Additional Information:
For this assay, SNP(s) [rs72968540] 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 |