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 11 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ANKH | NM_054027.4 | 9 | 1418 | NP_473368.1 |
XM_017009644.1 | 9 | 1018 | XP_016865133.1 | |
AB046801.1 | 9 | 1248 | ||
AF274753.1 | 9 | 1155 | AAF88039.1 | |
AK001799.1 | 5 | 543 | ||
AK130676.1 | 4 | 382 | ||
AK315012.1 | 9 | 1116 | ||
AY358503.1 | 9 | 1169 | AAQ88867.1 | |
BC009835.2 | 9 | 1343 | AAH09835.1 | |
BC014526.2 | 9 | 1143 | 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 | FAM105A OTULIN SNORD141B LOC100130744 ANKH TRIO |
nsv1018187 | Chr.5:14385055 - 15126994 on Build GRCh38 | Gain | FAM105A OTULIN SNORD141B LOC100130744 MIR4637 ANKH TRIO |
nsv4728 | Chr.5:14691303 - 14725902 on Build GRCh38 | Insertion | OTULIN LOC100130744 ANKH |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |