Product Details

SNP ID

rs148103941

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:45176005 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTCCAGTCTCCACTAAGCCTGGCT[C/T]CTGCCCCATTATCTTGATCCGGTGC

Phenotype

MIM: 182257

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PI3 PubMed Links

Gene Details

Gene

PI3

Gene Name

peptidase inhibitor 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002638.3	248	Missense Mutation	TCC,TTC	S75F	NP_002629.1

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