Basic Information

HTRA1

Full name: HtrA serine peptidase 1

Gene type: protein coding

HGNC ID: HGNC:5654

Gene location: 10q26.13

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/5654

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:9476

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_002775.5

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/Q92743

AlphaFold: https://alphafold.ebi.ac.uk/entry/Q92743

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/602194

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=5654

Pathway resources

Variant resources

Gene Disease type Variant type NCBI dbSNP Alleles Variant location
HTRA1 rs11200638
HTRA1 2KB Upstream Variant rs2672598 T>A / T>C chr10:122461166 (GRCh38.p13)
HTRA1 AMD rs3793917
HTRA1 AMD Intron Variant rs2284665 G>A / G>C / G>T chr10:122467114 (GRCh38.p13)
HTRA1 AMD Intron Variant rs932275 G>A chr10:122471948 (GRCh38.p13)
HTRA1 AMD 2KB Upstream Variant rs3763764 A>G chr10:122460545 (GRCh38.p13)
HTRA1 AMD Synonymous Variant rs1049331 C>T chr10:122461754 (GRCh38.p13)
HTRA1 AMD Synonymous Variant rs2293870 G>C / G>T chr10:122461760 (GRCh38.p13)
HTRA1 AMD Intron Variant rs58077526 A>C / A>T chr10:122470508 (GRCh38.p13)
HTRA1 AMD Intron Variant rs2142308 G>C chr10:122474521 (GRCh38.p13)
HTRA1 nAMD Intron Variant rs11200644 T>C chr10:122471425 (GRCh38.p13)
HTRA1 nAMD Intron Variant rs2672591 A>G / A>T chr10:122474768 (GRCh38.p13)
HTRA1 rs4752699 chr10:122474804 (GRCh38.p13)
HTRA1 nAMD Intron Variant rs7093894 C>A chr10:122475364 (GRCh38.p13)
HTRA1 nAMD Intron Variant rs2672589 G>A / G>C / G>T chr10:122475472 (GRCh38.p13)
HTRA1 nAMD rs2672587
HTRA1 nAMD Intron Variant rs4752700 A>G chr10:122478096 (GRCh38.p13)
HTRA1 nAMD Intron Variant rs878107 T>C chr10:122486351 (GRCh38.p13)
HTRA1 nAMD Intron Variant rs763720 G>A chr10:122502928 (GRCh38.p13)
HTRA1 nAMD Intron Variant rs2250804 T>A / T>C / T>G chr10:122505362 (GRCh38.p13)
HTRA1 nAMD Intron Variant rs2268356 C>G / C>T chr10:122505810 (GRCh38.p13)
HTRA1 nAMD 2KB Upstream Variant rs55928386 C>T chr10:122461151 (GRCh38.p13)
HTRA1 nAMD N/A rs72171000 N/A N/A
HTRA1 AMD Intron Variant rs2253755 A>G / A>T chr10:122482041 (GRCh38.p13)
HTRA1 AMD Intron Variant rs2248799 C>A / C>G / C>T chr10:122464428 (GRCh38.p13)
HTRA1 rs7667298
HTRA1 Intron Variant rs2736914 G>C / G>T chr10:122473986 (GRCh38.p13)
HTRA1 rs4752699
HTRA1 Intron Variant rs2672590 A>C / A>G chr10:122475088 (GRCh38.p13)
HTRA1 Intron Variant rs2672588 T>C chr10:122475780 (GRCh38.p13)
HTRA1 Intron Variant rs4237540 A>C / A>G / A>T chr10:122477982 (GRCh38.p13)
HTRA1 Intron Variant rs2736917 G>A / G>C chr10:122479467 (GRCh38.p13)
HTRA1 Intron Variant rs2300431 G>A chr10:122483301 (GRCh38.p13)
HTRA1 Intron Variant rs2300433 A>G chr10:122483941 (GRCh38.p13)
HTRA1 Intron Variant rs11200651 A>G chr10:122486486 (GRCh38.p13)
HTRA1 Intron Variant rs876790 C>A / C>G / C>T chr10:122504019 (GRCh38.p13)
HTRA1 advanced AMD Intron Variant rs714816 G>A chr10:122496829 (GRCh38.p13)
HTRA1 exudative AMD Intron Variant rs12267142 C>G / C>T chr10:122488726 (GRCh38.p13)
HTRA1 exudative AMD Intron Variant rs2239586 C>G / C>T chr10:122489719 (GRCh38.p13)
HTRA1 exudative AMD Intron Variant rs2239587 G>A chr10:122489793 (GRCh38.p13)
HTRA1 exudative AMD Intron Variant rs2672582 C>A / C>T chr10:122506984 (GRCh38.p13)
HTRA1 exudative AMD Intron Variant rs2672583 G>A / G>C / G>T chr10:122507571 (GRCh38.p13)
HTRA1 exudative AMD Intron Variant rs2672585 C>G chr10:122508885 (GRCh38.p13)
HTRA1 exudative AMD Intron Variant rs2272599 G>A chr10:122512079 (GRCh38.p13)
HTRA1 AMD rs11528744