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 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MBNL1 | XM_005247475.3 | XP_005247532.1 | ||
XM_006713639.1 | XP_006713702.1 | |||
XM_017006428.1 | XP_016861917.1 | |||
XM_017006439.1 | XP_016861928.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv954493 | Chr.3:152196212 - 152409011 on Build GRCh38 | Duplication | TMEM14EP LOC101928166 MBNL1-AS1 MBNL1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |