Product Details

SNP ID
rs201070748
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:73011017 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAACTTCAGGAAAAACAGTGGCTCC[C/T]CCTGCAGACACATCACTCATCTATA
Phenotype
MIM: 176710
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
P4HA1 PubMed Links

Gene Details

Gene
P4HA1
Gene Name
prolyl 4-hydroxylase subunit alpha 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000917.3 1576 Silent Mutation GGA,GGG G463G NP_000908.2
NM_001017962.2 1576 Silent Mutation GGA,GGG G463G NP_001017962.1
NM_001142595.1 1576 Silent Mutation GGA,GGG G463G NP_001136067.1
NM_001142596.1 1576 Silent Mutation GGA,GGG G445G NP_001136068.1

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