Product Details

SNP ID

rs199993571

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:70058650 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCCTAATACTCACCTTGTGAGGC[C/T]GGTGCTTCTCATGAACATGAAGAAT

Phenotype

MIM: 611781

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PRDM14 PubMed Links

Gene Details

Gene

PRDM14

Gene Name

PR domain 14

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024504.3	1578	Missense Mutation	CAG,CGG	Q459R	NP_078780.1
XM_011517572.1	1578	Intron			XP_011515874.1

View Full Product Details