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

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