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: | Within Exon 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CRYM | NM_001888.4 | 4 | 616 | NP_001879.1 |
AK290852.1 | 2 | 335 | ||
AK310424.1 | 2 | 289 | ||
BC018061.1 | 2 | 334 | AAH18061.1 | |
BI860684.1 | 3 | 289 | ||
BX648477.1 | 4 | 532 | CAI46030.1 | |
L02950.1 | 2 | 295 | AAC16914.1 | |
U85772.1 | 2 | 290 | AAB81564.1 |
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 | MIR3680-1 LOC100190986 CRYM-AS1 METTL9 RRN3P1 IGSF6 UQCRC2 PDZD9 NPIPB3 SLC7A5P2 SMG1P3 NPIPB4 CRYM SNX29P1 OTOA LOC101927814 |
nsv571623 | Chr.16:21084049 - 21341186 on Build GRCh38 | Gain | CRYM-AS1 DNAH3 CRYM TMEM159 ANKS4B ZP2 |
esv3638164 | Chr.16:21185596 - 21338776 on Build GRCh38 | Gain | CRYM-AS1 CRYM ANKS4B ZP2 |
nsv436835 | Chr.16:18930652 - 21500976 on Build GRCh38 | Insertion | LOC100190986 ACSM1 DNAH3 GDE1 KNOP1 TMEM159 TMC7 ANKS4B DCUN1D3 SYT17 ACSM5 NPIPB3 TMC5 LOC81691 COQ7 LYRM1 C16orf62 ACSM2B ZP2 GPR139 ERI2 LOC102723385 CRYM-AS1 CCP110 ITPRIPL2 PDILT IQCK UMOD ACSM3 GP2 SMG1P3 ACSM2A CRYM SNX29P1 CLEC19A THUMPD1 GPRC5B |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |