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 Intron 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CRYM | NM_001888.4 | NP_001879.1 | ||
AK290852.1 | ||||
AK310424.1 | ||||
BC018061.1 | AAH18061.1 | |||
BI860684.1 | ||||
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 |
---|---|---|---|
nsv571623 | Chr.16:21084049 - 21341186 on Build GRCh38 | Gain | TMEM159 ANKS4B ZP2 CRYM DNAH3 CRYM-AS1 |
esv3638164 | Chr.16:21185596 - 21338776 on Build GRCh38 | Gain | ANKS4B ZP2 CRYM CRYM-AS1 |
nsv436835 | Chr.16:18930652 - 21500976 on Build GRCh38 | Insertion | SNX29P1 ACSM2B LOC81691 ANKS4B DNAH3 SYT17 GPR139 CRYM-AS1 GDE1 LOC100190986 GP2 TMEM159 ACSM2A COQ7 SMG1P3 CLEC19A DCUN1D3 PDILT ITPRIPL2 ACSM3 CCP110 THUMPD1 ACSM5 TMC7 LOC102723385 NPIPB3 GPRC5B ERI2 KNOP1 C16orf62 ACSM1 LYRM1 TMC5 ZP2 CRYM UMOD IQCK |
More Information
Additional Information:
For this assay, SNP(s) [rs78452478] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |