Product Details

SNP ID
rs104894272
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:13492789 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTTACTTAACAGATTTCCCATCCG[A/G]TTTTGTAAGAAAACAAATTGCCAAC
Phenotype
MIM: 168450
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PTH PubMed Links

Gene Details

Gene
PTH
Gene Name
parathyroid hormone
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000315.3 206 Missense Mutation CCG,TCG P23S NP_000306.1
NM_001316352.1 206 Missense Mutation CCG,TCG P55S NP_001303281.1

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