Product Details

Assay Reference Genome
Location

Chr.19:12665472 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 3
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
MAN2B1 NM_000528.3 3 392 NP_000519.2
NM_001173498.1 3 392 NP_001166969.1
XM_005259913.1 3 370 XP_005259970.1
XM_017026818.1 1 54 XP_016882307.1
AB209921.1 3 304 BAD93158.1
AK291572.1 3 357
AK303418.1 4 331
AU127707.1 3 359
AU128464.1 3 356
BC000736.2 3 338 AAH00736.1
BI828908.1 3 361
DB237901.1 3 392
U05572.1 3 349 AAB03816.1
U60266.1 3 330 AAC34130.1
U68382.1 3 297 AAC50811.1
U68567.1 3 304 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 HOOK2 DHPS TNPO2 WDR83 MIR5684 ZNF791 FBXW9 ASNA1 C19orf43 PRDX2 MAN2B1 LOC105372280 JUNB SNORD41 SNORD135 BEST2 RNASEH2A ZNF490 WDR83OS
dgv138n111 Chr19:12627853 - 12810372 on Build GRCh38 Deletion HOOK2 DHPS TNPO2 WDR83 MIR5684 ZNF791 FBXW9 ASNA1 C19orf43 PRDX2 MAN2B1 LOC105372280 JUNB SNORD41 SNORD135 BEST2 RNASEH2A WDR83OS

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