Assay Details
Target Gene Details
Entrez Gene ID: | 50804 |
Gene Name: | myelin expression factor 2 |
Gene Aliases: |
HsT18564, MEF-2, MST156, MSTP156, myEF-2 |
Location: |
Chr.15:48134632-48178517 on Build GRCh38 |
Assay Gene Location: | Within Exon 19 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MYEF2 | XM_005254425.4 | 16 | 10002 | XP_005254482.2 |
XM_017022285.1 | 15 | 9951 | XP_016877774.1 | |
XM_017022286.1 | 15 | 9930 | XP_016877775.1 | |
XM_017022287.1 | 14 | 9879 | XP_016877776.1 | |
XM_017022291.1 | 14 | 9722 | XP_016877780.1 | |
XM_017022292.1 | 13 | 9671 | XP_016877781.1 | |
BX537526.1 | 1 | 1839 |
Target Gene Details
Entrez Gene ID: | 283652 |
Gene Name: | solute carrier family 24 member 5 |
Gene Aliases: |
JSX, NCKX5, OCA6, SHEP4 |
Location: |
Chr.15:48120972-48142392 on Build GRCh38 |
Assay Gene Location: | Overlaps Exon 6 - Intron 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SLC24A5 | NM_205850.2 | NP_995322.1 | ||
XM_017022079.1 | XP_016877568.1 | |||
XM_017022080.1 | XP_016877569.1 | |||
AF348468.1 | AAQ15116.1 | |||
BC113628.1 | ||||
BC113630.1 | ||||
BC143950.1 | ||||
DQ665306.1 | ||||
DQ665307.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv832999 | Chr.15:47960097 - 48160208 on Build GRCh38 | Gain | MYEF2 SLC24A5 |
nsv569338 | Chr.15:48104611 - 48160602 on Build GRCh38 | Loss | MYEF2 SLC24A5 |
More Information
Set Membership: |
Intragenic Exonic Non-exonic DGV Variation |