Assay Details
Target Gene Details
Entrez Gene ID: | 4636 |
Gene Name: | myosin light chain 5 |
Gene Aliases: |
- |
Location: |
Chr.4:674199-682033 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MYL5 | XM_006713886.2 | XP_006713949.1 | ||
XM_017008245.1 | 1 | 303 | XP_016863734.1 | |
XM_017008246.1 | 1 | 321 | XP_016863735.1 | |
XM_017008248.1 | XP_016863737.1 | |||
AK123974.1 | 1 | 1255 | ||
AK125529.1 | 1 | 332 | ||
BC040050.1 | AAH40050.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv593206 | Chr.4:632173 - 741362 on Build GRCh38 | Loss | PDE6B ATP5I LOC101928521 MFSD7 PCGF3 MYL5 |
esv2759217 | Chr.4:609419 - 937566 on Build GRCh38 | Loss | PDE6B CPLX1 GAK ATP5I LOC101928521 MFSD7 PCGF3 MYL5 LOC107986211 LOC100129917 TMEM175 |
nsv822425 | Chr.4:546316 - 1420011 on Build GRCh38 | Loss | SPON2 ATP5I CTBP1-AS CTBP1-AS2 DGKQ CTBP1 CRIPAK CPLX1 GAK LOC101928521 MAEA LOC107986211 TMED11P LOC105374344 LOC100129917 RNF212 NKX1-1 FGFRL1 LOC100130872 MFSD7 PCGF3 LOC101928548 MYL5 TMEM175 PDE6B SLC26A1 UVSSA IDUA |
nsv829834 | Chr.4:671688 - 781736 on Build GRCh38 | Loss | ATP5I MFSD7 PCGF3 MYL5 LOC107986211 LOC100129917 |
nsv950325 | Chr.4:620112 - 796912 on Build GRCh38 | Deletion | PDE6B CPLX1 ATP5I LOC101928521 MFSD7 PCGF3 MYL5 LOC107986211 LOC100129917 |
nsv593208 | Chr.4:674211 - 688444 on Build GRCh38 | Loss | ATP5I MFSD7 MYL5 |
nsv508986 | Chr.4:527899 - 756994 on Build GRCh38 | Insertion | PDE6B ATP5I LOC101928521 MFSD7 PCGF3 MYL5 LOC107986211 PIGG |
nsv10413 | Chr.4:673415 - 690512 on Build GRCh38 | Gain | ATP5I MFSD7 MYL5 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |