Product Details

SNP ID
rs76510216
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:38975109 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGGAGAAGGTGGCGCCATCGGTGG[G/T]TCACGTGCAGCTGTGGGGCAGGTAA
Phenotype
MIM: 610700 MIM: 607773
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
HTRA4 PubMed Links

Gene Details

Gene
HTRA4
Gene Name
HtrA serine peptidase 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_153692.3 660 Missense Mutation GGT,GTT G182V NP_710159.1
XM_011544431.2 660 Missense Mutation GGT,GTT G182V XP_011542733.1
XM_011544432.1 660 Missense Mutation GGT,GTT G182V XP_011542734.1
Gene
PLEKHA2
Gene Name
pleckstrin homology domain containing A2
There are no transcripts associated with this gene.

View Full Product Details