Product Details

Assay Reference Genome
Location

Chr.7:92528346 on build GRCh38
Cytoband
7q21.2
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
5189
Gene Symbol
PEX1
Gene Name
peroxisomal biogenesis factor 1
Gene Aliases
HMLR1, PBD1A, PBD1B, ZWS, ZWS1
Location
Chr.7:92487023-92528531 on build GRCh38
Assay Gene Location
Overlaps Intron 1 - Exon 1
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
PEX1 NM_000466.2 NP_000457.1
NM_001282677.1 NP_001269606.1
NM_001282678.1 NP_001269607.1
AB008112.1 BAA85162.1
AB052090.1 BAB59061.1
AB052091.1 BAB59062.1
AB052092.1 BAB59063.1
AB052093.1 BAB59064.1
AB052094.1 BAB59065.1
AF026086.1 AAB87880.1
AF030356.1 AAB99758.1
AK292955.1
AK293757.1
AK295686.1
BC035575.1 AAH35575.1
DA313282.1
DC370317.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation
Location CNV
Subtype
Genes
nsv5841 Chr7:92522344 - 92555675 on Build GRCh38 Insertion RBM48 PEX1

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