Assay Details
Target Gene Details
Entrez Gene ID: | 127281 |
Gene Name: | family with sequence similarity 213 member B |
Gene Aliases: |
C1orf93 |
Location: |
Chr.1:2586460-2591469 on Build GRCh38 |
Assay Gene Location: | Overlaps Exon 1 - Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
FAM213B | NR_036637.1 | |||
NR_036638.1 | ||||
BI908668.1 | ||||
DA292832.1 | ||||
DA495138.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv829648 | Chr.1:2567689 - 2640901 on Build GRCh38 | Loss | MMEL1 LOC100996583 FAM213B TTC34 |
esv3582248 | Chr.1:2569899 - 2636548 on Build GRCh38 | Gain | MMEL1 LOC100996583 FAM213B |
nsv545077 | Chr.1:2428542 - 2622185 on Build GRCh38 | Gain | LOC115110 MMEL1 TNFRSF14 HES5 PLCH2 PANK4 LOC100996583 FAM213B |
nsv545082 | Chr.1:2536231 - 2597243 on Build GRCh38 | Loss | LOC115110 MMEL1 TNFRSF14 LOC100996583 FAM213B |
nsv470684 | Chr.1:2394570 - 2930923 on Build GRCh38 | Loss | LOC115110 MMEL1 TNFRSF14 HES5 PLCH2 PANK4 RER1 LOC100996583 FAM213B TTC34 PEX10 |
nsv545083 | Chr.1:2575976 - 2653099 on Build GRCh38 | Gain | MMEL1 LOC100996583 FAM213B TTC34 |
nsv951592 | Chr.1:2564862 - 2613961 on Build GRCh38 | Deletion | MMEL1 TNFRSF14 LOC100996583 FAM213B |
More Information
Additional Information:
For this assay, SNP(s) [rs111285510] 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 Non-exonic DGV Variation |