Product Details

Assay Reference Genome
Location

Chr.19:12649969 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 17 - Exon 18
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
nsv138389 Chr19:12649500 - 12650363 on Build GRCh38 Deletion MAN2B1
nsv1160586 Chr19:12597480 - 12823909 on Build GRCh38 Duplication ZNF490 SNORD41 RNASEH2A WDR83 HOOK2 DHPS WDR83OS ZNF791 FBXW9 LOC105372280 PRDX2 SNORD135 BEST2 C19orf43 JUNB ASNA1 TNPO2 MAN2B1 MIR5684
dgv138n111 Chr19:12627853 - 12810372 on Build GRCh38 Deletion SNORD41 RNASEH2A WDR83 HOOK2 DHPS WDR83OS ZNF791 FBXW9 LOC105372280 PRDX2 SNORD135 BEST2 C19orf43 JUNB ASNA1 TNPO2 MAN2B1 MIR5684

View Full Product Details