Product Details

SNP ID

rs183381747

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:167442163 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTCCTGGGTGTCAGGATTTGTCAC[G/T]CTTCCCATAAACAGAATTGATTCTA

Phenotype

MIM: 605587

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

SERPINI2 PubMed Links

Gene Details

Gene

SERPINI2

Gene Name

serpin family I member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001012303.2	1395	Missense Mutation	AGA,AGC	R398S	NP_001012303.1
NM_006217.4	1395	Missense Mutation	AGA,AGC	R388S	NP_006208.1

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