Assay Details
Target Gene Details
Entrez Gene ID: | 80208 |
Gene Name: | spastic paraplegia 11 (autosomal recessive) |
Gene Aliases: |
ALS5, CMT2X, KIAA1840 |
Location: |
Chr.15:44562696-44663678 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 36 - Exon 37 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SPG11 | NM_001160227.1 | NP_001153699.1 | ||
NM_025137.3 | NP_079413.3 | |||
XM_006720700.1 | XP_006720763.1 | |||
XM_017022634.1 | XP_016878123.1 | |||
XM_017022636.1 | XP_016878125.1 | |||
AB058743.2 | BAB47469.2 | |||
AB470308.1 | ||||
AB470309.1 | ||||
AB470310.1 | ||||
AK025092.1 | BAB15065.1 | |||
AK057869.1 | ||||
AK225186.1 | ||||
BC024161.1 | ||||
BC067798.1 | AAH67798.1 | |||
BC094704.1 | AAH94704.1 | |||
BC150640.1 | ||||
BC153879.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv827313 | Chr.15:44565158 - 44571284 on Build GRCh38 | Loss | SPG11 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |