Assay Details
Target Gene Details
Entrez Gene ID: | 5744 |
Gene Name: | parathyroid hormone like hormone |
Gene Aliases: |
BDE2, HHM, PLP, PTHR, PTHRP |
Location: |
Chr.12:27958084-27974187 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 6 - Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PTHLH | NM_198965.1 | NP_945316.1 | ||
NM_198966.1 | NP_945317.1 | |||
XM_011520774.2 | XP_011519076.1 | |||
XM_011520775.2 | XP_011519077.1 | |||
XM_017019674.1 | XP_016875163.1 | |||
XM_017019675.1 | XP_016875164.1 | |||
AI569027.1 | ||||
AI591151.1 | ||||
AI760061.1 | ||||
BG676028.1 | ||||
BI752853.1 | ||||
J03580.1 | AAA60216.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv557864 | Chr.12:27899261 - 28277169 on Build GRCh38 | Gain | PTHLH CCDC91 LOC729291 |
nsv1159991 | Chr.12:27941830 - 27966663 on Build GRCh38 | Deletion | PTHLH |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |