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 Intron 2 - Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CRYM | NM_001888.4 | NP_001879.1 | ||
BG033512.1 | 2 | 283 | ||
BI860684.1 | ||||
BX648477.1 | CAI46030.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv34235 | Chr.16:21276264 - 21986230 on Build GRCh38 | Gain | LOC101927814 METTL9 RRN3P1 IGSF6 PDZD9 SLC7A5P2 NPIPB3 NPIPB4 CRYM-AS1 UQCRC2 OTOA CRYM MIR3680-1 LOC100190986 SNX29P1 SMG1P3 |
nsv571623 | Chr.16:21084049 - 21341186 on Build GRCh38 | Gain | CRYM-AS1 ZP2 CRYM TMEM159 ANKS4B DNAH3 |
esv3638164 | Chr.16:21185596 - 21338776 on Build GRCh38 | Gain | CRYM-AS1 ZP2 CRYM ANKS4B |
nsv436835 | Chr.16:18930652 - 21500976 on Build GRCh38 | Insertion | GDE1 ZP2 KNOP1 UMOD LYRM1 ERI2 SYT17 TMEM159 ACSM5 LOC102723385 ITPRIPL2 THUMPD1 NPIPB3 CRYM-AS1 C16orf62 CCP110 TMC7 CRYM ACSM2B GPRC5B LOC100190986 DNAH3 SNX29P1 GP2 LOC81691 IQCK COQ7 PDILT GPR139 TMC5 CLEC19A ACSM3 ACSM1 DCUN1D3 ACSM2A ANKS4B SMG1P3 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |