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 Exon 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MBNL1 | NM_001314057.1 | 1 | 330 | NP_001300986.1 |
NM_021038.4 | 1 | 330 | NP_066368.2 | |
NM_207292.2 | 1 | 330 | NP_997175.1 | |
XM_005247464.4 | XP_005247521.1 | |||
XM_005247475.3 | XP_005247532.1 | |||
XM_006713639.1 | XP_006713702.1 | |||
XM_017006428.1 | XP_016861917.1 | |||
XM_017006439.1 | XP_016861928.1 | |||
AB007888.1 | 1 | 330 | ||
BM686432.1 | 1 | 202 |
Target Gene Details
Entrez Gene ID: | 401093 |
Gene Name: | MBNL1 antisense RNA 1 |
Gene Aliases: |
- |
Location: |
Chr.3:152262616-152269626 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MBNL1-AS1 | NR_027037.1 | 2 | 464 | |
NR_027038.1 | 2 | 475 | ||
AK304857.1 | 2 | 384 | ||
AK316515.1 | 2 | 404 | ||
BM790896.1 |
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 Exonic DGV Variation |