Product Details

SNP ID

hCV27840196

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:13496067 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAGAGAGGCTCTTTTATTGTTACA[G/T]ATGATGTCACTCCCAATTCTCTGGA

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	109	Intron			NP_000306.1
NM_001316352.1	109	Silent Mutation	ATA,ATC	I22I	NP_001303281.1

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