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 | 1777 | NP_473368.1 |
XM_017009644.1 | 12 | 1377 | XP_016865133.1 | |
AB046801.1 | 12 | 1607 | ||
AF274753.1 | 12 | 1514 | AAF88039.1 | |
AK001799.1 | 8 | 902 | ||
AK130676.1 | 7 | 741 | ||
AK315012.1 | ||||
AY358503.1 | 12 | 1528 | AAQ88867.1 | |
BC009835.2 | 12 | 1702 | AAH09835.1 | |
BC014526.2 | 12 | 1502 | 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 | LOC100130744 TRIO FAM105A ANKH SNORD141B OTULIN |
nsv1018187 | Chr.5:14385055 - 15126994 on Build GRCh38 | Gain | LOC100130744 TRIO FAM105A MIR4637 ANKH SNORD141B OTULIN |
nsv4728 | Chr.5:14691303 - 14725902 on Build GRCh38 | Insertion | LOC100130744 ANKH OTULIN |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |