Product Details

SNP ID
rs200028871
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:8270146 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGGTGTGCGCCGCCAGCGAGGGC[A/G]AGCCCTGTGGCGGCCCTCTGGACTC
Phenotype
MIM: 608785
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
HTRA3 PubMed Links

Gene Details

Gene
HTRA3
Gene Name
HtrA serine peptidase 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001297559.1 390 Missense Mutation AAG,GAG K60E NP_001284488.1
NM_053044.4 390 Missense Mutation AAG,GAG K60E NP_444272.1
XM_011513596.2 390 Missense Mutation AAG,GAG K60E XP_011511898.1

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