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Gene Symbol
SMPD5
Assay Reference Genome
Location

Chr.8:144049697 on build GRCh38
Cytoband
8q24.3
Assay ID Hs03679776_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 392275

Gene Name:

 sphingomyelin phosphodiesterase 5

Gene Aliases:

 MA-nSMase

Location:

 Chr.8:144048677-144051220 on Build GRCh38

Assay Gene Location:

 Within Exon 2
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
SMPD5 XM_017014128.1 2 932 XP_016869617.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv824801 Chr.8:144046683 - 144059698 on Build GRCh38 Gain OPLAH SMPD5 MIR6846 SPATC1
nsv470249 Chr.8:143889098 - 144519234 on Build GRCh38 Loss BOP1 SLC39A4 SCX MIR7112 HSF1 SMPD5 PARP10 KIFC2 HGH1 TONSL-AS1 CPSF1 SLC52A2 MIR661 ADCK5 TONSL OPLAH CYC1 MIR6846 MIR6847 PLEC GPAA1 PPP1R16A EXOSC4 MROH1 MIR1234 LRRC14 LOC101928953 RECQL4 MIR6848 FOXH1 CYHR1 GRINA MAF1 MIR6849 GPT TMEM249 LOC101928902 WDR97 FBXL6 SCRT1 MIR939 SPATC1 MIR6893 DGAT1 MFSD3 VPS28 SHARPIN
nsv6446 Chr.8:144012529 - 144050050 on Build GRCh38 Insertion SMPD5 SPATC1
nsv612914 Chr.8:143972494 - 144120626 on Build GRCh38 Loss SMPD5 PARP10 GRINA MAF1 WDR97 OPLAH CYC1 MIR6846 MIR6847 PLEC GPAA1 SPATC1 EXOSC4 SHARPIN
nsv950015 Chr.8:143866633 - 144125597 on Build GRCh38 Deletion SMPD5 PARP10 MIR661 GRINA MAF1 WDR97 OPLAH CYC1 MIR6846 MIR6847 PLEC EPPK1 GPAA1 SPATC1 EXOSC4 SHARPIN
nsv1161815 Chr.8:143775169 - 144080674 on Build GRCh38 Deletion LOC642574 SMPD5 PARP10 MIR661 PUF60 GRINA MIR937 SCRIB NRBP2 OPLAH MIR6846 MIR6847 PLEC EPPK1 SPATC1 MIR6845 EXOSC4
nsv1025071 Chr.8:144044224 - 144300847 on Build GRCh38 Gain BOP1 SCX MIR7112 HSF1 SMPD5 HGH1 MAF1 WDR97 OPLAH CYC1 MIR6846 MIR6847 GPAA1 SPATC1 EXOSC4 SHARPIN MROH1
nsv466014 Chr.8:144007080 - 144224185 on Build GRCh38 Loss SMPD5 HGH1 MAF1 WDR97 OPLAH CYC1 MIR6846 MIR6847 GPAA1 SPATC1 EXOSC4 SHARPIN MROH1
nsv515809 Chr.8:143904439 - 144519234 on Build GRCh38 Gain+Loss BOP1 SLC39A4 SCX MIR7112 HSF1 SMPD5 PARP10 KIFC2 HGH1 TONSL-AS1 CPSF1 SLC52A2 MIR661 ADCK5 TONSL OPLAH CYC1 MIR6846 MIR6847 PLEC GPAA1 PPP1R16A EXOSC4 MROH1 MIR1234 LRRC14 LOC101928953 RECQL4 MIR6848 FOXH1 CYHR1 GRINA MAF1 MIR6849 GPT TMEM249 LOC101928902 WDR97 FBXL6 SCRT1 MIR939 SPATC1 MIR6893 DGAT1 MFSD3 VPS28 SHARPIN
nsv612917 Chr.8:144045204 - 144063598 on Build GRCh38 Loss OPLAH SMPD5 MIR6846 SPATC1
dgv906n27 Chr.8:143845100 - 144161320 on Build GRCh38 Loss SMPD5 PARP10 HGH1 MIR661 GRINA MAF1 WDR97 OPLAH CYC1 MIR6846 MIR6847 PLEC EPPK1 GPAA1 SPATC1 EXOSC4 SHARPIN MROH1
dgv12433n54 Chr.8:143902404 - 144120626 on Build GRCh38 Gain SMPD5 PARP10 MIR661 GRINA MAF1 WDR97 OPLAH CYC1 MIR6846 MIR6847 PLEC GPAA1 SPATC1 EXOSC4 SHARPIN
nsv470250 Chr.8:143917934 - 144097007 on Build GRCh38 Gain OPLAH SMPD5 PARP10 CYC1 MIR6846 MIR6847 PLEC MIR661 GPAA1 SPATC1 GRINA EXOSC4
nsv428208 Chr.8:144041826 - 144722291 on Build GRCh38 Gain BOP1 SLC39A4 SCX MIR7112 HSF1 SMPD5 KIFC2 HGH1 TONSL-AS1 CPSF1 SLC52A2 ADCK5 C8orf82 ZNF251 TONSL OPLAH CYC1 MIR6846 MIR6847 GPAA1 PPP1R16A EXOSC4 MROH1 MIR1234 LRRC14 LOC101928953 RECQL4 MIR6848 FOXH1 ARHGAP39 CYHR1 MAF1 MIR6849 GPT TMEM249 LOC101928902 WDR97 FBXL6 SCRT1 MIR939 SPATC1 MIR6893 DGAT1 LRRC24 MFSD3 VPS28 SHARPIN
nsv612907 Chr.8:143917935 - 144097007 on Build GRCh38 Gain+Loss OPLAH SMPD5 PARP10 CYC1 MIR6846 MIR6847 PLEC MIR661 GPAA1 SPATC1 GRINA EXOSC4

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

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