Product Details

SNP ID
rs112907550
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:38974668 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGCGCTCCGGGCCGAAAACCGCGC[C/G]GCGCGCCGCCTGGGCAAGGTCCCGG
Phenotype
MIM: 610700 MIM: 607773
Polymorphism
C/G, 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_153692.3 520 Silent Mutation GCC,GCG A135A NP_710159.1
XM_011544431.2 520 Silent Mutation GCC,GCG A135A XP_011542733.1
XM_011544432.1 520 Silent Mutation GCC,GCG A135A XP_011542734.1
Gene
PLEKHA2
Gene Name
pleckstrin homology domain containing A2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_021623.1 520 Intron NP_067636.1
XM_011544605.2 520 Intron XP_011542907.1
XM_011544606.2 520 Intron XP_011542908.1
XM_011544607.2 520 Intron XP_011542909.1
XM_017013718.1 520 Intron XP_016869207.1
XM_017013719.1 520 Intron XP_016869208.1
XM_017013720.1 520 Intron XP_016869209.1

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