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: | Overlaps Intron 9 - Exon 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ALDH6A1 | NM_001278593.1 | NP_001265522.1 | ||
NM_001278594.1 | NP_001265523.1 | |||
NM_005589.3 | NP_005580.1 | |||
XM_017021331.1 | XP_016876820.1 | |||
AF148505.1 | AAF04489.1 | |||
AF159889.1 | AAF80380.1 | |||
AJ249994.1 | CAB76468.1 | |||
AK222687.1 | BAD96407.1 | |||
AK223244.1 | BAD96964.1 | |||
AK294243.1 | ||||
AK311478.1 | ||||
AK312389.1 | ||||
BC004909.1 | AAH04909.1 | |||
BC032371.1 | AAH32371.1 | |||
M93405.1 | AAA36328.1 |
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 14 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BBOF1 | XM_011537172.1 | XP_011535474.1 | ||
XM_017021659.1 | XP_016877148.1 | |||
AK097531.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv1937n100 | Chr.14:73950133 - 74115803 on Build GRCh38 | Gain | LIN52 COQ6 FAM161B ENTPD5 BBOF1 ALDH6A1 |
dgv1938n100 | Chr.14:73984364 - 74075786 on Build GRCh38 | Gain | ENTPD5 BBOF1 ALDH6A1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |