Assay Details
Target Gene Details
Entrez Gene ID: | 1428 |
Gene Name: | crystallin mu |
Gene Aliases: |
DFNA40, THBP |
Location: |
Chr.16:21258518-21303136 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 10 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CRYM | NM_001888.4 | NP_001879.1 | ||
AK290852.1 | ||||
AK310424.1 | ||||
BX648477.1 | CAI46030.1 | |||
L02950.1 | AAC16914.1 | |||
U85772.1 | AAB81564.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3638165 | Chr.16:21188383 - 21267495 on Build GRCh38 | Gain | ZP2 CRYM ANKS4B |
nsv571623 | Chr.16:21084049 - 21341186 on Build GRCh38 | Gain | ZP2 CRYM CRYM-AS1 ANKS4B TMEM159 DNAH3 |
esv3638164 | Chr.16:21185596 - 21338776 on Build GRCh38 | Gain | ZP2 CRYM CRYM-AS1 ANKS4B |
nsv436835 | Chr.16:18930652 - 21500976 on Build GRCh38 | Insertion | ACSM3 GP2 CLEC19A DCUN1D3 DNAH3 GPR139 CCP110 ACSM2A SNX29P1 ACSM5 LYRM1 SYT17 LOC81691 KNOP1 GDE1 TMC7 ACSM1 ZP2 IQCK LOC100190986 NPIPB3 CRYM PDILT CRYM-AS1 ANKS4B SMG1P3 TMC5 ITPRIPL2 THUMPD1 GPRC5B UMOD ERI2 LOC102723385 ACSM2B TMEM159 COQ7 C16orf62 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |