Product Details

Assay Reference Genome
Location

Chr.19:12646591 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 24
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
MAN2B1 NM_000528.3 24 3141 NP_000519.2
NM_001173498.1 24 3138 NP_001166969.1
XM_005259913.1 24 3122 XP_005259970.1
XM_017026818.1 21 2720 XP_016882307.1
AB209921.1 24 3053 BAD93158.1
AK291572.1 24 3106
AK303418.1 25 3080
AW172353.1 1 91
BC000736.2 24 3087 AAH00736.1
BM982008.1 1 102
U05572.1 24 3095 AAB03816.1
U60266.1 24 3079 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 BEST2 FBXW9 WDR83OS MAN2B1 SNORD135 LOC105372280 JUNB HOOK2 TNPO2 SNORD41 WDR83 DHPS ZNF490 RNASEH2A PRDX2 MIR5684 ZNF791 C19orf43 ASNA1
dgv138n111 Chr19:12627853 - 12810372 on Build GRCh38 Deletion BEST2 FBXW9 WDR83OS MAN2B1 SNORD135 LOC105372280 JUNB HOOK2 TNPO2 SNORD41 WDR83 DHPS RNASEH2A PRDX2 MIR5684 ZNF791 C19orf43 ASNA1

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