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 4 |
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 | CRYM TMEM159 DNAH3 ZP2 CRYM-AS1 ANKS4B |
esv3638164 | Chr.16:21185596 - 21338776 on Build GRCh38 | Gain | CRYM ZP2 CRYM-AS1 ANKS4B |
nsv436835 | Chr.16:18930652 - 21500976 on Build GRCh38 | Insertion | THUMPD1 ERI2 SNX29P1 LOC81691 ACSM3 LOC102723385 ACSM2B DCUN1D3 NPIPB3 GDE1 TMEM159 KNOP1 ZP2 SYT17 COQ7 TMC5 CCP110 ACSM2A TMC7 SMG1P3 ACSM1 GPR139 GPRC5B LOC100190986 C16orf62 ACSM5 UMOD CRYM CLEC19A IQCK LYRM1 DNAH3 CRYM-AS1 ITPRIPL2 PDILT ANKS4B GP2 |
More Information
Additional Information:
For this assay, SNP(s) [rs79846944] 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 |