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See other MBNL1 CNV Assays ›
Gene Symbol
MBNL1
Assay Reference Genome
Location

Chr.3:152340921 on build GRCh38
Cytoband
3q25.2
Assay ID Hs07407644_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 4154

Gene Name:

 muscleblind like splicing regulator 1

Gene Aliases:

 EXP, MBNL

Location:

 Chr.3:152243656-152465780 on Build GRCh38

Assay Gene Location:

 Within Intron 9
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
MBNL1 NM_001314057.1 NP_001300986.1
NM_021038.4 NP_066368.2
NM_207292.2 NP_997175.1
NM_207293.1 NP_997176.1
NM_207294.1 NP_997177.1
NM_207295.1 NP_997178.1
NM_207296.1 NP_997179.1
NM_207297.1 NP_997180.1
XM_005247457.4 XP_005247514.1
XM_005247458.4 XP_005247515.1
XM_005247460.4 XP_005247517.1
XM_005247461.4 XP_005247518.1
XM_005247462.4 XP_005247519.1
XM_005247463.4 XP_005247520.1
XM_005247464.4 XP_005247521.1
XM_005247465.4 XP_005247522.1
XM_005247466.4 XP_005247523.1
XM_005247467.4 XP_005247524.1
XM_005247468.4 XP_005247525.1
XM_005247471.4 XP_005247528.1
XM_005247474.3 XP_005247531.1
XM_005247475.3 XP_005247532.1
XM_005247476.4 XP_005247533.1
XM_005247477.4 XP_005247534.1
XM_006713639.1 XP_006713702.1
XM_011512843.2 XP_011511145.1
XM_011512845.2 XP_011511147.1
XM_011512846.2 XP_011511148.1
XM_011512847.2 XP_011511149.1
XM_011512848.2 XP_011511150.1
XM_011512849.2 XP_011511151.1
XM_017006423.1 XP_016861912.1
XM_017006424.1 XP_016861913.1
XM_017006425.1 XP_016861914.1
XM_017006426.1 XP_016861915.1
XM_017006427.1 XP_016861916.1
XM_017006428.1 XP_016861917.1
XM_017006429.1 XP_016861918.1
XM_017006430.1 XP_016861919.1
XM_017006431.1 XP_016861920.1
XM_017006432.1 XP_016861921.1
XM_017006433.1 XP_016861922.1
XM_017006434.1 XP_016861923.1
XM_017006435.1 XP_016861924.1
XM_017006436.1 XP_016861925.1
XM_017006437.1 XP_016861926.1
XM_017006438.1 XP_016861927.1
XM_017006439.1 XP_016861928.1
XM_017006440.1 XP_016861929.1
XM_017006441.1 XP_016861930.1
XM_017006442.1 XP_016861931.1
XM_017006443.1 XP_016861932.1
AB007888.1
AF255334.1 AAF76138.1
AF395876.1 AAK82889.1
AF401998.1 AAK94915.1
AF497718.1 AAP30726.1
AF497719.1 AAP30727.1
AJ308400.1 CAC83727.1
BC043493.1 AAH43493.1
BC050535.1 AAH50535.1
Y13829.1 CAA74155.1

Target Gene Details

Entrez Gene ID:

 645843

Gene Name:

 transmembrane protein 14E, pseudogene

Gene Aliases:

 TMEM14E

Location:

 Chr.3:152339698-152340990 on Build GRCh38

Assay Gene Location:

 Within Exon 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
TMEM14EP NR_132656.1 1 70
AY358260.1 1 70 AAQ88627.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv483030 Chr.3:152301789 - 152497220 on Build GRCh38 Gain TMEM14EP MBNL1
nsv954493 Chr.3:152196212 - 152409011 on Build GRCh38 Duplication LOC101928166 MBNL1-AS1 TMEM14EP MBNL1

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