Product Details

SNP ID

rs202120909

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:42404716 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCGCTGTCGCTCTTGTCCACCAGCA[A/C]GGCGTCCGACTCCTCGGTGATCTCC

Phenotype

MIM: 603198

Polymorphism

A/C, Transversion 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	1367	Missense Mutation	GTG,TTG	V382L	NP_036364.2
XM_005257242.3	1367	Intron			XP_005257299.1

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