Product Details

SNP ID

rs149279242

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:96273333 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTTCCAGAAGACAACATCTGGAGA[A/G]GCATCCTCTCTGTTATTTTCTTCTT

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	369	UTR 5			NP_001277154.1
NM_014754.2	369	Missense Mutation	AGC,GGC	S72G	NP_055569.1

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