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 Intron 10 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ANKH | NM_054027.4 | NP_473368.1 | ||
XM_017009644.1 | XP_016865133.1 | |||
AB046801.1 | ||||
AF274753.1 | AAF88039.1 | |||
AK001799.1 | ||||
AK130676.1 | ||||
AK315012.1 | ||||
AY358503.1 | AAQ88867.1 | |||
BC009835.2 | AAH09835.1 | |||
BC014526.2 | AAH14526.1 |
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 | LOC100130744 TRIO SNORD141B ANKH FAM105A OTULIN |
nsv1018187 | Chr.5:14385055 - 15126994 on Build GRCh38 | Gain | LOC100130744 MIR4637 TRIO SNORD141B ANKH FAM105A OTULIN |
nsv4728 | Chr.5:14691303 - 14725902 on Build GRCh38 | Insertion | LOC100130744 ANKH OTULIN |
More Information
Additional Information:
For this assay, SNP(s) [rs115614035] 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 |