Assay Details
Target Gene Details
Entrez Gene ID: | 51062 |
Gene Name: | atlastin GTPase 1 |
Gene Aliases: |
AD-FSP, FSP1, GBP3, HSN1D, SPG3, SPG3A, atlastin1 |
Location: |
Chr.14:50533082-50633068 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ATL1 | NM_001127713.1 | 2 | 320 | NP_001121185.1 |
NM_015915.4 | 1 | 136 | NP_056999.2 | |
NM_181598.3 | 1 | 136 | NP_853629.2 | |
AF444143.1 | 1 | 69 | AAL37898.1 | |
AK223436.1 | 1 | 49 | BAD97156.1 | |
AK290185.1 | 1 | 49 | ||
AK312518.1 | ||||
AL833591.1 | 2 | 104 | CAH10392.1 | |
AY032844.1 | 1 | 63 | AAK51160.1 | |
BC010708.2 | 1 | 39 | AAH10708.2 | |
BG704589.1 | 1 | 124 | ||
BI601372.1 | 1 | 138 | ||
DA088230.1 | 1 | 136 | ||
DA397302.1 | 2 | 376 |
Target Gene Details
Entrez Gene ID: | 11183 |
Gene Name: | mitogen-activated protein kinase kinase kinase kinase 5 |
Gene Aliases: |
GCKR, KHS, KHS1, MAPKKKK5 |
Location: |
Chr.14:50418493-50561126 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MAP4K5 | XM_011536378.2 | XP_011534680.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1039493 | Chr.14:50476979 - 50687775 on Build GRCh38 | Gain |
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esv3581192 | Chr.14:50546798 - 50708585 on Build GRCh38 | Loss |
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More Information
Set Membership: |
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Panther Classification:
Gene Ontology Categories:
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