Product Details

SNP ID
rs199835566
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:81845570 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGAGGGAAGGCGCACCGTCCTGTC[A/G]GCACTGGCAGGAAAGAACTTGAGTG
Phenotype
MIM: 176790
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
P4HB PubMed Links

Gene Details

Gene
P4HB
Gene Name
prolyl 4-hydroxylase subunit beta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000918.3 1547 Silent Mutation GCC,GCT A450A NP_000909.2

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