Product Details

SNP ID
rs201831951
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:81844042 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTCATCTTTCACAGCTTTCTGATC[A/G]TCGTCTTCCTCCATGTCTGGCTCCT
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 1694 Silent Mutation GAC,GAT D499D NP_000909.2
Gene
PPP1R27
Gene Name
protein phosphatase 1 regulatory subunit 27
There are no transcripts associated with this gene.

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