Product Details

SNP ID

rs104894271

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:13492804 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCCATCCGATTTTGTAAGAAAAC[A/G]AATTGCCAACATGACAATCATAACT

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	191	Missense Mutation	CGT,TGT	R18C	NP_000306.1
NM_001316352.1	191	Missense Mutation	CGT,TGT	R50C	NP_001303281.1

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