Product Details

SNP ID

rs144892262

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:70598078 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCACCACACGGCCCCACTCCGGTTT[C/T]CTGGAGGCTCCCCCAGAAGCATTTG

Phenotype

MIM: 170280

Polymorphism

C/T, 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	1804	Missense Mutation	GAA,GGA	E548G	NP_001076585.1
NM_005041.4	1804	Missense Mutation	GAA,GGA	E548G	NP_005032.2

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