Assay Details
Target Gene Details
Entrez Gene ID: | 4329 |
Gene Name: | aldehyde dehydrogenase 6 family member A1 |
Gene Aliases: |
MMSADHA, MMSDH |
Location: |
Chr.14:74057662-74084493 on Build GRCh38 |
Assay Gene Location: | Within Exon 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ALDH6A1 | NM_001278593.1 | 12 | 3114 | NP_001265522.1 |
NM_001278594.1 | 12 | 3316 | NP_001265523.1 | |
NM_005589.3 | 12 | 3153 | NP_005580.1 | |
XM_017021331.1 | 10 | 3004 | XP_016876820.1 |
Target Gene Details
Entrez Gene ID: | 80127 |
Gene Name: | basal body orientation factor 1 |
Gene Aliases: |
C14orf45, CCDC176 |
Location: |
Chr.14:74019350-74078351 on Build GRCh38 |
Assay Gene Location: | Within Intron 13 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BBOF1 | NM_025057.2 | NP_079333.2 | ||
XM_011537171.2 | XP_011535473.1 | |||
XM_011537172.1 | XP_011535474.1 | |||
XM_011537174.2 | XP_011535476.1 | |||
XM_017021659.1 | XP_016877148.1 | |||
XM_017021660.1 | XP_016877149.1 | |||
XM_017021661.1 | XP_016877150.1 | |||
XM_017021662.1 | XP_016877151.1 | |||
XM_017021663.1 | XP_016877152.1 | |||
AK026842.1 | BAB15572.1 | |||
AK097531.1 | ||||
AL834487.1 | CAD39145.1 | |||
BC104979.1 | AAI04980.1 | |||
BC104981.1 | AAI04982.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3634932 | Chr.14:74053535 - 74063579 on Build GRCh38 | Loss |
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dgv1937n100 | Chr.14:73950133 - 74115803 on Build GRCh38 | Gain |
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dgv1938n100 | Chr.14:73984364 - 74075786 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)