Product Details

Assay Reference Genome
Location

Chr.19:12666603 on build GRCh38
Cytoband
19p13.13
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
4125
Gene Symbol
MAN2B1
Gene Name
mannosidase alpha class 2B member 1
Gene Aliases
LAMAN, MANB
Location
Chr.19:12646508-12666777 on build GRCh38
Assay Gene Location
Within Exon 1
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
MAN2B1 NM_000528.3 1 175 NP_000519.2
NM_001173498.1 1 175 NP_001166969.1
XM_005259913.1 1 153 XP_005259970.1
AB209921.1 1 87 BAD93158.1
AK291572.1 1 140
AK303418.1
AU127707.1 1 141
AU128464.1 1 140
BC000736.2 1 121 AAH00736.1
BI828908.1 1 144
BM147968.1 1 152
DB237901.1 1 175
U05572.1 1 132 AAB03816.1
U60266.1 1 113 AAC34130.1
U68382.1 1 80 AAC50811.1
U68567.1 1 87 AAC50812.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation
Location CNV
Subtype
Genes
nsv1160586 Chr19:12597480 - 12823909 on Build GRCh38 Duplication WDR83 RNASEH2A ASNA1 HOOK2 SNORD41 MAN2B1 TNPO2 WDR83OS JUNB ZNF791 FBXW9 C19orf43 DHPS LOC105372280 BEST2 SNORD135 PRDX2 MIR5684 ZNF490
dgv138n111 Chr19:12627853 - 12810372 on Build GRCh38 Deletion WDR83 RNASEH2A ASNA1 HOOK2 SNORD41 MAN2B1 TNPO2 WDR83OS JUNB ZNF791 FBXW9 C19orf43 DHPS LOC105372280 BEST2 SNORD135 PRDX2 MIR5684

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