Product Details

SNP ID

rs112204704

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:96273336 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCAGAAGACAACATCTGGAGAGGC[A/G]TCCTCTCTGTTATTTTCTTCTTTCT

Phenotype

MIM: 612792

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PTDSS1 PubMed Links

Gene Details

Gene

PTDSS1

Gene Name

phosphatidylserine synthase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001290225.1	372	UTR 5			NP_001277154.1
NM_014754.2	372	Missense Mutation	ATC,GTC	I73V	NP_055569.1

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