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: | Within Exon 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PTHLH | NM_002820.2 | NP_002811.1 | ||
NM_198964.1 | 1 | 81 | NP_945315.1 | |
NM_198965.1 | NP_945316.1 | |||
NM_198966.1 | 1 | 81 | 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 | |||
AK313476.1 | 1 | 98 | ||
BC005961.1 | AAH05961.1 | |||
BG676028.1 | 1 | 77 | ||
BG679319.1 | 1 | 81 | ||
BG680355.1 | ||||
BI752853.1 | ||||
J03580.1 | AAA60216.1 | |||
J03802.1 | 1 | 81 | AAA60218.1 | |
M26958.1 | 1 | 72 | AAO49791.1 | |
M26959.1 | AAO49793.1 | |||
M26960.1 | AAN76483.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3628956 | Chr.12:27969159 - 27972559 on Build GRCh38 | Loss | PTHLH |
nsv557864 | Chr.12:27899261 - 28277169 on Build GRCh38 | Gain | CCDC91 PTHLH LOC729291 |
nsv557876 | Chr.12:27961883 - 28572171 on Build GRCh38 | Gain | CCDC91 PTHLH LOC101928705 LOC729291 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |