Product Details

SNP ID

rs6127140

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:54214378 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCAGAAGATGTCAATGTTACTTTC[C/G]AAGATCAACAAAAGATAAACAAATT

Phenotype

MIM: 604898

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

PFDN4 PubMed Links

Gene Details

Gene

PFDN4

Gene Name

prefoldin subunit 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002623.3	190	Missense Mutation	CAA,GAA	Q18E	NP_002614.2

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