Genomic Map
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Target Gene Details
Entrez Gene ID: | 8291 |
Gene Name: | dysferlin |
Gene Aliases: |
FER1L1, LGMD2B, MMD1 |
Location: |
Chr.2:71453155-71686763 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| DYSF | NM_001130976.1 | 1 | 67 | NP_001124448.1 |
| NM_001130977.1 | 1 | 67 | NP_001124449.1 | |
| NM_001130978.1 | 1 | 67 | NP_001124450.1 | |
| NM_001130979.1 | 1 | 67 | NP_001124451.1 | |
| NM_001130980.1 | 1 | 67 | NP_001124452.1 | |
| NM_001130981.1 | 1 | 67 | NP_001124453.1 | |
| NM_003494.3 | 1 | 67 | NP_003485.1 | |
| XM_005264585.4 | 1 | 535 | XP_005264642.1 | |
| AF075575.1 | 1 | 64 | AAC63519.1 | |
| AI128455.1 | 1 | 67 | ||
| AI192657.1 | 1 | 67 | ||
| AI739271.1 | ||||
| EU515155.1 | ||||
| EU515156.1 | ||||
| EU515157.1 | ||||
| EU515158.1 | ||||
| EU515159.1 | ||||
| EU515160.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv521345 | Chr.2:71345325 - 71458399 on Build GRCh38 | Loss |
 DYSF
ZNF638
|
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Set Membership: |
Intragenic
Exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
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