Product Details

Assay Reference Genome
Location

Chr.19:12664882 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 4
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
MAN2B1 NM_000528.3 4 616 NP_000519.2
NM_001173498.1 4 616 NP_001166969.1
XM_005259913.1 4 594 XP_005259970.1
XM_017026818.1 2 278 XP_016882307.1
AB209921.1 4 528 BAD93158.1
AK291572.1 4 581
AK303418.1 5 555
AU127707.1
BC000736.2 4 562 AAH00736.1
BI828908.1 4 585
DB237901.1
U05572.1 4 573 AAB03816.1
U60266.1 4 554 AAC34130.1
U68382.1 4 521 AAC50811.1
U68567.1 4 528 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 WDR83OS C19orf43 MIR5684 SNORD41 SNORD135 FBXW9 RNASEH2A LOC105372280 ASNA1 BEST2 HOOK2 WDR83 ZNF490 TNPO2 DHPS JUNB ZNF791 PRDX2 MAN2B1
dgv138n111 Chr19:12627853 - 12810372 on Build GRCh38 Deletion WDR83OS C19orf43 MIR5684 SNORD41 SNORD135 FBXW9 RNASEH2A LOC105372280 ASNA1 BEST2 HOOK2 WDR83 TNPO2 DHPS JUNB ZNF791 PRDX2 MAN2B1

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