Assay Details
Target Gene Details
Entrez Gene ID: | 5378 |
Gene Name: | PMS1 homolog 1, mismatch repair system component |
Gene Aliases: |
HNPCC3, MLH2, PMSL1, hPMS1 |
Location: |
Chr.2:189784085-189877629 on Build GRCh38 |
Assay Gene Location: | Within Intron 4 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv3080 | Chr.2:189796928 - 189841789 on Build GRCh38 | Deletion | PMS1 |
More Information
Additional Information:
For this assay, SNP(s) [rs114394215] 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 |