Product Details

SNP ID

rs201237944

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:13492523 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTTTTTCGGGGCCTCTGGGAACCA[G/T]CATCTCTGGGAGCTAGAGGAGCTCC

Phenotype

MIM: 168450

Polymorphism

G/T, Transversion 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	369	Missense Mutation	GAT,GCT	D77A	NP_000306.1
NM_001316352.1	369	Missense Mutation	GAT,GCT	D109A	NP_001303281.1

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