Product Details

SNP ID

rs201193016

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:107692825 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATTTTTCTTACAGATGCTGAGACT[C/T]TTGGTGAATCTCTCTTGGGTCTTAC

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PWP1 PubMed Links

Gene Details

Gene

PWP1

Gene Name

PWP1 homolog, endonuclein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317962.1	355	Missense Mutation	CTT,TTT	L49F	NP_001304891.1
NM_001317963.1	355	UTR 5			NP_001304892.1
NM_007062.2	355	Missense Mutation	CTT,TTT	L111F	NP_008993.1

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