Product Details

SNP ID

rs200119869

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:13492557 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGCTAGAGGAGCTCCAAGGGCAA[C/T]AAAATTGTGCACATCCTGCAGCTTC

Phenotype

MIM: 168450

Polymorphism

C/T, 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	335	Missense Mutation	ATT,GTT	I66V	NP_000306.1
NM_001316352.1	335	Missense Mutation	ATT,GTT	I98V	NP_001303281.1

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