Product Details

Assay Reference Genome
Location

Chr.19:12648364 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
Overlaps Intron 20 - Exon 21
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
MAN2B1 NM_000528.3 NP_000519.2
NM_001173498.1 NP_001166969.1
XM_005259913.1 XP_005259970.1
XM_017026818.1 XP_016882307.1
AB209921.1 BAD93158.1
AK291572.1
AK303418.1
AW172353.1
BC000736.2 AAH00736.1
BM982008.1
U05572.1 AAB03816.1
U60266.1 AAC34130.1
U68382.1 AAC50811.1
U68567.1 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 ZNF791 PRDX2 RNASEH2A ASNA1 MIR5684 ZNF490 WDR83OS MAN2B1 C19orf43 BEST2 DHPS SNORD41 TNPO2 WDR83 FBXW9 SNORD135 JUNB LOC105372280 HOOK2
dgv138n111 Chr19:12627853 - 12810372 on Build GRCh38 Deletion ZNF791 PRDX2 RNASEH2A ASNA1 MIR5684 WDR83OS MAN2B1 C19orf43 BEST2 DHPS SNORD41 TNPO2 WDR83 FBXW9 SNORD135 JUNB LOC105372280 HOOK2

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