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Entrez Gene ID: | 5251 |
Gene Name: | phosphate regulating endopeptidase homolog, X-linked |
Gene Aliases: |
HPDR, HPDR1, HYP, HYP1, LXHR, PEX, XLH |
Location: |
Chr.X:22032327-22251310 on Build GRCh38 |
Assay Gene Location: | Within Exon 24 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PHEX | NM_000444.5 | 22 | 3212 | NP_000435.3 |
NM_001282754.1 | 21 | 3135 | NP_001269683.1 | |
XM_011545533.1 | 18 | 2021 | XP_011543835.1 | |
XM_011545536.2 | 14 | 2054 | XP_011543838.1 | |
XM_017029579.1 | 18 | 2022 | XP_016885068.1 | |
AK301528.1 | ||||
BU680665.1 |
Entrez Gene ID: | 100873065 |
Gene Name: | PTCHD1 antisense RNA (head to head) |
Gene Aliases: |
DDX53-AS1, PTCHD1AS1, PTCHD1AS2 |
Location: |
Chr.X:22193005-23293146 on Build GRCh38 |
Assay Gene Location: | Within Intron 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PTCHD1-AS | NR_073010.2 | |||
DA390816.1 |
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv521384 | Chr.X:22198650 - 22953327 on Build GRCh38 | Gain | PTCHD1-AS ZNF645 PHEX |
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |