Product Details

SNP ID

rs142613980

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:13492626 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTCCATCGAGTTCAGATGTTTTC[C/G]CAGGTTATGCATAAGCTGTATTTCA

Phenotype

MIM: 168450

Polymorphism

C/G, 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	266	Missense Mutation	CGA,GGA	R43G	NP_000306.1
NM_001316352.1	266	Missense Mutation	CGA,GGA	R75G	NP_001303281.1

View Full Product Details