Assay Details
Target Gene Details
Entrez Gene ID: | 84179 |
Gene Name: | major facilitator superfamily domain containing 7 |
Gene Aliases: |
LP2561 |
Location: |
Chr.4:676205-689468 on Build GRCh38 |
Assay Gene Location: | Within Intron 11 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MFSD7 | XM_005272299.4 | XP_005272356.1 |
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 Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MYL5 | XM_006713886.2 | XP_006713949.1 | ||
XM_017008245.1 | XP_016863734.1 | |||
XM_017008246.1 | XP_016863735.1 | |||
XM_017008247.1 | XP_016863736.1 | |||
XM_017008248.1 | XP_016863737.1 | |||
AK123974.1 | ||||
AK125529.1 | ||||
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 | LOC101928521 PCGF3 ATP5I MYL5 MFSD7 PDE6B |
esv2759217 | Chr.4:609419 - 937566 on Build GRCh38 | Loss | LOC101928521 LOC100129917 TMEM175 PCGF3 ATP5I GAK MYL5 CPLX1 MFSD7 LOC107986211 PDE6B |
nsv822425 | Chr.4:546316 - 1420011 on Build GRCh38 | Loss | LOC101928548 CTBP1 TMEM175 TMED11P MAEA DGKQ CPLX1 CTBP1-AS2 LOC100129917 RNF212 PCGF3 FGFRL1 GAK LOC100130872 LOC107986211 UVSSA LOC101928521 IDUA CRIPAK SLC26A1 MYL5 MFSD7 CTBP1-AS PDE6B NKX1-1 ATP5I LOC105374344 SPON2 |
nsv829834 | Chr.4:671688 - 781736 on Build GRCh38 | Loss | LOC100129917 PCGF3 ATP5I MYL5 MFSD7 LOC107986211 |
nsv950325 | Chr.4:620112 - 796912 on Build GRCh38 | Deletion | LOC101928521 LOC100129917 PCGF3 ATP5I MYL5 CPLX1 MFSD7 LOC107986211 PDE6B |
nsv593208 | Chr.4:674211 - 688444 on Build GRCh38 | Loss | ATP5I MYL5 MFSD7 |
nsv508986 | Chr.4:527899 - 756994 on Build GRCh38 | Insertion | LOC101928521 PIGG PCGF3 ATP5I MYL5 MFSD7 LOC107986211 PDE6B |
nsv10413 | Chr.4:673415 - 690512 on Build GRCh38 | Gain | ATP5I MYL5 MFSD7 |
More Information
Additional Information:
For this assay, SNP(s) [rs184187611] 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 Intronic Non-exonic DGV Variation |