Product Details

Assay Reference Genome
Location

Chr.19:46746209 on build GRCh38
Cytoband
19q13.32
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

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 Intron 1
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
FKRP NM_001039885.2 NP_001034974.1
NM_024301.4 NP_077277.1
XM_005259247.2 XP_005259304.1
XM_005259248.2 XP_005259305.1
XM_005259249.4 XP_005259306.1
XM_011527306.1 XP_011525608.1
XM_011527307.1 XP_011525609.1
XM_017027297.1 XP_016882786.1
AJ314847.1 CAC85633.1
AK022638.1 BAB14146.1
AK095497.1
AK291282.1
BM979509.1
DA123579.1
DB090073.1
Entrez Gene ID
29888
Gene Symbol
STRN4
Gene Name
striatin 4
Gene Aliases
PPP2R6C, ZIN, zinedin
Location
Chr.19:46719509-46746475 on build GRCh38
Assay Gene Location
Within Exon 1
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
STRN4 NM_001039877.1 1 255 NP_001034966.1
NM_013403.2 1 255 NP_037535.2
XM_006723171.2 1 267 XP_006723234.1
XM_006723172.2 1 267 XP_006723235.1
XM_011526878.1 1 267 XP_011525180.1
XM_017026719.1 1 267 XP_016882208.1
AB209003.1 1 207 BAD92240.1
AF212940.1 1 222 AAF29527.1
AK297637.1
AK298804.1
BC034604.1 1 232 AAH34604.1
DA510367.1 1 255

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 SNAR-E FKRP STRN4 ARHGAP35 LOC107987269 PRKD2 SLC1A5 AP2S1 MIR320E

View Full Product Details