Product Details

SNP ID

rs112332573

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:42404933 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTTGTAGACCGCGGTCTTGGAGCG[C/T]GCGTACACCACGTGGTCGGGCGTGA

Phenotype

MIM: 603198

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PTRF PubMed Links

Gene Details

Gene

PTRF

Gene Name

polymerase I and transcript release factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012232.5	1150	Silent Mutation	GCA,GCG	A309A	NP_036364.2
XM_005257242.3	1150	Intron			XP_005257299.1

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