Assay Details
Target Gene Details
Entrez Gene ID: | 3973 |
Gene Name: | luteinizing hormone/choriogonadotropin receptor |
Gene Aliases: |
HHG, LCGR, LGR2, LH/CG-R, LH/CGR, LHR, LHRHR, LSH-R, ULG5 |
Location: |
Chr.2:48686774-48755741 on Build GRCh38 |
Assay Gene Location: | Within Exon 14 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
LHCGR | NM_000233.3 | 11 | 1978 | NP_000224.2 |
XM_005264309.3 | 2 | 1704 | XP_005264366.1 | |
XM_006712015.3 | 2 | 1934 | XP_006712078.1 | |
XM_011532828.1 | 10 | 1886 | XP_011531130.1 | |
XM_011532831.1 | 7 | 1609 | XP_011531133.1 | |
XM_011532834.2 | 2 | 1276 | XP_011531136.1 | |
XM_017004089.1 | 8 | 3480 | XP_016859578.1 | |
XM_017004090.1 | 5 | 1753 | XP_016859579.1 | |
AK123498.1 | ||||
M63108.1 | 11 | 1916 | AAA59515.1 | |
M73746.1 | 11 | 1901 | AAA70231.1 | |
S57793.1 | 11 | 1908 | AAB19917.2 |
Target Gene Details
Entrez Gene ID: | 286749 |
Gene Name: | STON1-GTF2A1L readthrough |
Gene Aliases: |
SALF |
Location: |
Chr.2:48529925-48776517 on Build GRCh38 |
Assay Gene Location: | Within Intron 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
STON1-GTF2A1L | NM_001198593.1 | NP_001185522.1 | ||
AK309740.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1002793 | Chr.2:48544081 - 49239411 on Build GRCh38 | Gain | MIR548BA LHCGR STON1-GTF2A1L GTF2A1L STON1 FSHR |
nsv833992 | Chr.2:48587084 - 48770898 on Build GRCh38 | Gain | LHCGR STON1-GTF2A1L GTF2A1L STON1 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |