Product Details

Assay Reference Genome
Location

Chr.19:46757282 on build GRCh38
Cytoband
19q13.32
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

For this assay, SNP(s) [rs73060707] 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
79147
Gene Symbol
FKRP
Gene Name
fukutin related protein
Gene Aliases
LGMD2I, MDC1C, MDDGA5, MDDGB5, MDDGC5
Location
Chr.19:46746015-46758575 on build GRCh38
Assay Gene Location
Within Exon 5
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
FKRP NM_001039885.2 4 2181 NP_001034974.1
NM_024301.4 4 2129 NP_077277.1
XM_005259247.2 5 2242 XP_005259304.1
XM_005259248.2 5 2232 XP_005259305.1
XM_005259249.4 5 2174 XP_005259306.1
XM_011527306.1 3 1978 XP_011525608.1
XM_011527307.1 4 2027 XP_011525609.1
XM_017027297.1 4 2348 XP_016882786.1
AJ314847.1 4 2117 CAC85633.1
AK022638.1 4 2117 BAB14146.1
AK095497.1 4 2168
AK291282.1 4 2117
BC002612.2 2 1925 AAH02612.1
BM979509.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation
Location CNV
Subtype
Genes
nsv833850 Chr19:46703285 - 46867053 on Build GRCh38 Loss ARHGAP35 FKRP SLC1A5 SNAR-E AP2S1 LOC107987269 STRN4 PRKD2 MIR320E

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