Assay Details
Target Gene Details
Entrez Gene ID: | 56172 |
Gene Name: | ANKH inorganic pyrophosphate transport regulator |
Gene Aliases: |
ANK, CCAL2, CMDJ, CPPDD, HANK, MANK |
Location: |
Chr.5:14704800-14871778 on Build GRCh38 |
Assay Gene Location: | Within Exon 14 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ANKH | NM_054027.4 | 12 | 2529 | NP_473368.1 |
XM_017009644.1 | 12 | 2129 | XP_016865133.1 | |
AB046801.1 | 12 | 2359 | ||
AK001799.1 | ||||
AK130676.1 | 7 | 1493 | ||
AY358503.1 | 12 | 2280 | AAQ88867.1 | |
BC014526.2 | 12 | 2254 | AAH14526.1 |
Target Gene Details
Entrez Gene ID: | 90268 |
Gene Name: | OTU deubiquitinase with linear linkage specificity |
Gene Aliases: |
FAM105B, GUM |
Location: |
Chr.5:14660794-14716552 on Build GRCh38 |
Assay Gene Location: | Within Intron 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
OTULIN | XM_011514151.2 | XP_011512453.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1026914 | Chr.5:14237673 - 14751479 on Build GRCh38 | Gain | ANKH SNORD141B LOC100130744 OTULIN FAM105A TRIO |
nsv1018187 | Chr.5:14385055 - 15126994 on Build GRCh38 | Gain | ANKH SNORD141B LOC100130744 MIR4637 OTULIN FAM105A TRIO |
nsv4728 | Chr.5:14691303 - 14725902 on Build GRCh38 | Insertion | ANKH LOC100130744 OTULIN |
More Information
Additional Information:
For this assay, SNP(s) [rs370243294] 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 Exonic Intronic Non-exonic DGV Variation |