Product Details

SNP ID

rs201423535

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:55425277 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCATGCAGAGTTGTATGAGAGTCCT[C/T]CTCTTTTCTTTCTTTAAAAGAAGTT

Phenotype

MIM: 607124

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PLPP1 PubMed Links

Gene Details

Gene

PLPP1

Gene Name

phospholipid phosphatase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003711.3	3900	Missense Mutation	AAG,GAG	K262E	NP_003702.2
NM_176895.2	3900	Missense Mutation	AAG,GAG	K263E	NP_795714.1
XM_006714724.2	3900	Missense Mutation	AAG,GAG	K199E	XP_006714787.1

Gene

SKIV2L2

Gene Name

Ski2 like RNA helicase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015360.4	3900	UTR 3			NP_056175.3

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