Product Details

SNP ID

rs199955107

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:13492587 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGTGCACATCCTGCAGCTTCTTAC[A/G]CAGCCATTCTACTCTCTCCATCGAG

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	305	Missense Mutation	CGT,TGT	R56C	NP_000306.1
NM_001316352.1	305	Missense Mutation	CGT,TGT	R88C	NP_001303281.1

View Full Product Details