Product Details

SNP ID
rs199700907
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.11:74267272 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCAGTCTTCAGGGCTGGAGCTGCA[A/G]GGTCTGCGGAATTCCTGTCCATACT
Phenotype
MIM: 608987
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
P4HA3 PubMed Links

Gene Details

Gene
P4HA3
Gene Name
prolyl 4-hydroxylase subunit alpha 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001288748.1 1676 Missense Mutation CCT,CTT P535L NP_001275677.1
NM_182904.4 1676 Silent Mutation CCC,CCT P537P NP_878907.1

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