Assay Details
Target Gene Details
Entrez Gene ID: | 9499 |
Gene Name: | myotilin |
Gene Aliases: |
LGMD1, LGMD1A, MFM3, TTID, TTOD |
Location: |
Chr.5:137867282-137887851 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 4 - Exon 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MYOT | NM_001135940.1 | NP_001129412.1 | ||
NM_001300911.1 | NP_001287840.1 | |||
NM_006790.2 | NP_006781.1 | |||
XM_017010060.1 | XP_016865549.1 | |||
XM_017010061.1 | XP_016865550.1 | |||
XM_017010062.1 | XP_016865551.1 | |||
AF133820.2 | AAD29051.2 | |||
AF144477.1 | AAD44754.1 | |||
AK300076.1 | ||||
AK300088.1 | ||||
AK307620.1 | ||||
AK312733.1 | ||||
BC005376.1 | AAH05376.1 | |||
KU178476.1 | ||||
KU178477.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv830501 | Chr.5:137788777 - 137977035 on Build GRCh38 | Gain |
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esv3606913 | Chr.5:137856857 - 138124533 on Build GRCh38 | Gain |
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![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
More Information
Set Membership: |
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Panther Classification:
Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)