Product Details

SNP ID

rs193302876

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:70598475 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTTGGATGAAGGTCACCTCCAGCT[G/A]GGCCAGGCCCCTCTGCCGAGGGCAG

Phenotype

MIM: 170280

Polymorphism

G/A, Transition substitution

Allele Nomenclature

Literature Links

PRF1 PubMed Links

Gene Details

Gene

PRF1

Gene Name

perforin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001083116.1	1407	Nonsense Mutation	CAG,TAG	Q416*	NP_001076585.1
NM_005041.4	1407	Nonsense Mutation	CAG,TAG	Q416*	NP_005032.2

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