Product Details

Assay Reference Genome
Location

Chr.15:72368163 on build GRCh38
Cytoband
15q23
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
3073
Gene Symbol
HEXA
Gene Name
hexosaminidase subunit alpha
Gene Aliases
TSD
Location
Chr.15:72343435-72376473 on build GRCh38
Assay Gene Location
Within Intron 1
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
HEXA NM_000520.5 NP_000511.2
NM_001318825.1 NP_001305754.1
NR_134869.1
AK222502.1 BAD96222.1
AK296528.1
AK297678.1
AK301000.1
AK301138.1
AK307770.1
AK310154.1
BC018927.2 AAH18927.1
BC084537.1 AAH84537.1
BP356349.1
CR627386.1 CAH10482.1
DC356933.1
KU178109.1
KU178110.1
KU178111.1
KU178112.1
KU178113.1
M13520.1 AAA51827.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation
Location CNV
Subtype
Genes
esv3636874 Chr15:72366924 - 72368726 on Build GRCh38 Loss HEXA

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