Product Details

Assay Reference Genome
Location

Chr.19:12652200 on build GRCh38
Cytoband
19p13.13
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

For this assay, SNP(s) [rs75029862] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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 16 - Exon 16
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
nsv1160586 Chr19:12597480 - 12823909 on Build GRCh38 Duplication RNASEH2A WDR83 C19orf43 SNORD41 SNORD135 ZNF791 FBXW9 DHPS LOC105372280 PRDX2 TNPO2 MAN2B1 ASNA1 JUNB BEST2 WDR83OS HOOK2 MIR5684 ZNF490
dgv138n111 Chr19:12627853 - 12810372 on Build GRCh38 Deletion RNASEH2A WDR83 C19orf43 SNORD41 SNORD135 ZNF791 FBXW9 DHPS LOC105372280 PRDX2 TNPO2 MAN2B1 ASNA1 JUNB BEST2 WDR83OS HOOK2 MIR5684

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