Product Details

SNP ID

rs139650319

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:86108373 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGATTTTATTCTGGTAGTGCAACCC[C/T]CTCAAAGGTTGAAGGAACTGATGTA

Phenotype

MIM: 616404 MIM: 614918

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

POLR1A PubMed Links

Gene Details

Gene

POLR1A

Gene Name

RNA polymerase I subunit A

There are no transcripts associated with this gene.

Gene

PTCD3

Gene Name

pentatricopeptide repeat domain 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017952.5	194	Missense Mutation	CCC,CTC	P43L	NP_060422.4

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