Product Details

Assay Reference Genome
Location

Chr.19:12661314 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 7 - Exon 7
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
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 MAN2B1 DHPS JUNB ZNF490 ASNA1 MIR5684 ZNF791 BEST2 RNASEH2A HOOK2 SNORD135 FBXW9 WDR83OS WDR83 SNORD41 PRDX2 C19orf43 TNPO2 LOC105372280
dgv138n111 Chr19:12627853 - 12810372 on Build GRCh38 Deletion MAN2B1 DHPS JUNB ASNA1 MIR5684 ZNF791 BEST2 RNASEH2A HOOK2 SNORD135 FBXW9 WDR83OS WDR83 SNORD41 PRDX2 C19orf43 TNPO2 LOC105372280

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